A B C D E F G H I J K L M N O P Q R S T U V W Y X Z
Achondroplasia dwarfism, congenital osseous deformity causing the bones of the extremities to ossify prematurely. The arms and legs are shorter and the trunk is normal.
AD/HD Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioural). Some of the warning signs of ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype. ADHD is usually diagnosed in childhood, although the condition can continue into the adult years. http://www.add.org non profit organization for adults and young adults with ADD and ADHD http://www.chadd.org
Agnosia Agnosia is a neuropsychological disorder characterized by the inability to recognize common objects, persons, or sounds, in the absence of perceptual disability. There are three major types of agnosia: visual agnosia, auditory agnosia, and tactile agnosia. Agnosia is caused by lesions to the parietal and temporal lobes of the brain, regions involved in storing memories and associations of objects. The condition may arise following head trauma or stroke, or following carbon monoxide poisoning or anoxia. http://www.ninds.nih.gov/health_and_medical/disorders/agnosia.htm http://www.aphasiahope.org/index.jsp
Angelman Syndrome Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age.. Individuals with this syndrome often display hyperactivity, jerky movements, protruding tongues, and bouts of laughter, pronounced speech impairment, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits.. http://www.angelman.org
Aphasia Aphasia is a disorder caused by damage to the parts of the brain that control language. It can make it hard for you to read, write and say what you mean to say. It is most common in adults who have had a stroke. Brain tumors, infections, injuries and dementia can also cause it. The type of problem you have and how bad it is depends on which part of your brain is damaged and how much damage there is. There are four main types: Expressive aphasia – you know what you want to say, but you have trouble saying or writing what you mean: Receptive aphasia – you hear the voice or see the print, but you can't make sense of the words: Anomic aphasia – you have trouble using the correct word for objects, places or events : Global aphasia – you can't speak, understand speech, read or write. Aphasia affects the way children talk and the way they understand what others are saying. It weakens a child’s ability to read and write. Aphasia is very rare in children. http://www.afasic.org.uk Afasic is the UK charity and it offers a range of services and information that include a helpline, publications, support groups, online message boards and membership. http://www.aphasiahope.org/index.jsp
Arthrogriposis Multiple Congenita (AMC) is a rare disease characterized by micrognathia ( unusual small jaws ), limited jaw opening and multiple joint contractures. http://www.avenuesforamc.com national site for people with AMC. http://www.rarediseases.org http://www.amcsupport.org
Asperger disorder Asperger syndrome (AS) is a developmental disorder. It is an autism spectrum disorder (ASD), one of a distinct group of neurological conditions characterized by a greater or lesser degree of impairment in language and communication skills, as well as repetitive or restrictive patterns of thought and behavior. The most distinguishing symptom is a child’s obsessive interest in a single object or topic to the exclusion of any other. Children with AS want to know everything about their topic of interest and their conversations with others will be about little else. Their expertise, high level of vocabulary, and formal speech patterns make them seem like little professors. Other characteristics of AS include repetitive routines or rituals; peculiarities in speech and language; socially and emotionally inappropriate behaviour and the inability to interact successfully with peers; problems with non-verbal communication; and clumsy and uncoordinated motor movements. http://www.aspergers.com http://www.autism-society.org/site/PageNavigator/about_whatis_asperger http://www.udel.edu/bkirby/asperger online information and support (OASIS)
Asthma allergic condition that causes bouts of short breath, wheezing and endema of the mucosa. http://www.lungusa.org American lung association http://www.asthmanz.co.nz New Zealand asthma organisation http://www.ginasthma.com The Global Initiative for Asthma (GINA) works with health care professionals and public health officials around the world to reduce asthma prevalence, morbidity, and mortality. Through resources such as evidence-based guidelines for asthma management, and events such as the annual celebration of World Asthma Day, GINA is working to improve the lives of people with asthma in every corner of the globe. http://www.asthmascience.org/ asthma research site
Ataxia Cerebellar or Spinocerebellar Degeneration Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. Most disorders that result in ataxia cause cells in the part of the brain called the cerebellum to degenerate, or atrophy. Sometimes the spine is also affected. The phrases cerebellar degeneration and spinocerebellar degeneration are used to describe changes that have taken place in a person’s nervous system; neither term constitutes a specific diagnosis. Cerebellar and spinocerebellar degeneration have many different causes. The age of onset of the resulting ataxia varies depending on the underlying cause of the degeneration. Many ataxias are hereditary and are classified by chromosomal location and pattern of inheritance: autosomal dominant, in which the affected person inherits a normal gene from one parent and a faulty gene from the other parent; and autosomal recessive, in which both parents pass on a copy of the faulty gene. Among the more common inherited ataxias are Friedreich’s ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history. Ataxia can also be acquired. Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies http://www.ataxia.org http://www.curefa.org Friedreich´s Ataxia Research Alliance http://www.euro-ataxia.org http://www.mda.org.au/specific/mdafa.html http://www.ataxia.org
Athetosis infantile spasmodic paraplegia, a derangement marked by ceaseless occurrence of slow, sinuous writhing movements, especially severe in the hands and performed involuntary. It may occur after hemiplegia a ( post hemiplegic chorea). Double congenital athetosis due to birth trauma, which may occur in association with spastic paraplegia.
Atrial Septal Defect (ASD) The septum between the hearts´ atriums has not shut completely. More girls than boys suffer from this disorder. The blood flow is therefore shunted L-R . Mostly smaller children do not have problems but the older child can develop airway infections and exercise intolerance.
Autisme The primary characteristics of autism include impaired reciprocal social interactions, impaired communication, and restricted behaviours. Social difficulties of autism include impaired social play, a general preference for isolation in the presence of others, failure to seek comfort at times of distress, indifference to others and an inability to understand social rules and conventions. Communication and language problems are also primary in autism. Approximately 50% of autistic people do not develop meaningful communicative language and most autistic people also have problems with other forms of communication. Verbal autistic youngsters are frequently echolalic and cannot engage in social conversations. Non-verbal youngsters have difficulty understanding or being understood and consequently often retreat from interactions with others. Play is impaired in most autistic youngsters, lacking the social and creative aspects generally seen in non-handicapped children. The third primary characteristic of those with autism is their restricted range of behaviours, activities and interests. Lower functioning autistic people frequently engage in repetitive bodily movements, self stimulatory behaviours and sometimes even self abuse. Their play patterns are restricted and repetitive. Higher level autistic people may focus on some topics that are narrow and generally uninteresting to others: bus schedules, airplane timetables, geography, or numbers. http://www.autism-india.org/worldorgs.html autisme organization worldwide http://www.nas.org.uk http://www.autismuk.com/default.htm http://www.ninds.nih.gov/disorders/autism/detail_autism.htm http://www.autism.org parent organisation with a lot of information www.nas.org.uk National Autistic Society of England http://www.autism-society.org/ http://www.linguisystems.com/pdf/LinguiSystems-EarlyDetectionofAutism.pdf early detection test of autisme
Becker´s (Muscular) Dystrophy muscular dystrophy closely resembling pseudohypertrophic muscular dystrophy ( Duchenne) , but having a late onset and slowly progressive course. http://en.wikipedia.org/wiki/Becker's_muscular_dystrophy http://www.muscular- dystrophy.org/ http://beckermd.org/phpBB-2.0.22/phpBB2/index.php online space for Becker Muscular Dystrophy patients and caretakers
Behavioural, emotional and mental disorders www.acmh-mi.org parent organisation about children with emotional, behavioural or mental disorders in English and Spanish
Burn victim (pediatric burns) Most burn victims are boys between 5-19 yrs old. Burns are qualified as superficial or deep and into first, second, third and fourth degree. Special children’s scales have been developed to classify the seriousness. http://www.burnsupportgroupsdatabase.com http://homepages.tesco.net/~terryev http://www.fondtomafound.org/english/index.htm toma foundation for burned children
Cancer Cancer is the uncontrolled growth of abnormal cells in the body. Cancerous cells are also called malignant cells. Cancers (malignant neoplasms) invade and spread to remote sites (metastasize). Benign tumors cannot invade or spread to remote sites, but they can cause problems by compressing local structures. http://www.icccpo.org/ international confederation of child-cancer parent organisations. http://www.uicc.org international union against cancer
Cerebral Palsy Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance and posture. The disorders appear in the first few years of life. Usually they do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have trouble with tasks such as writing or using scissors. Some have other medical conditions, including seizure disorders or mental impairment. Cerebral palsy happens when the areas of the brain that control movement and posture do not develop correctly or get damaged. Early signs of cerebral palsy usually appear before 3 years of age. Babies with cerebral palsy are often slow to roll over, sit, crawl, smile or walk. Some babies are born with cerebral palsy; others get it after they are born. There is no cure for cerebral palsy, but treatment can improve the lives of those who have it. Treatment includes medicines, braces, and physical, occupational and speech therapy. The most common problems are a lack of muscle coordination when performing voluntary movements (ataxia); stiff or tight muscles and exaggerated reflexes (spasticity); walking with one foot or leg dragging; walking on the toes, a crouched gait, or a “scissored” gait; and muscle tone that is either too stiff or too floppy. A small number of children have cerebral palsy as the result of brain damage in the first few months or years of life, brain infections such as bacterial meningitis or viral encephalitis, or head injury from a motor vehicle accident, a fall, or child abuse. http://www.ucp.org http://www.ucpresearch.org
Chiari Malformation Chiari malformations (CMs) are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. There are three primary types of CM. The most common is Type I, which may not cause symptoms and is often found by accident during an examination for another condition. Type II (also called Arnold-Chiari malformation) is usually accompanied by a myelomeningocele-a form of spina bifida that occurs when the spinal canal and backbone do not close before birth, causing the spinal cord to protrude through an opening in the back. This can cause partial or complete paralysis below the spinal opening. Type III is the most serious form of CM, and causes severe neurological defects. Other conditions sometimes associated with CM include hydrocephalus, syringomyelia, and spinal curvature http://www.answers.com/topic/chiari-malformation?cat=health&nr=1
http://www.pressenter.com/~wacma/ http://www.conquerchiari.org/index.htm bimonthly on-line publication delivering the latest research updates, news and information
Chorea is an abnormal voluntary movement disorder (one of a group of neurological disorders called dyskinesias), which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by involuntary brief, jerky, irregular contractions in limbs or facial muscles that are not repetitive or rhythmic, but are well coordinated.. Chorea often occurs with athetosis,which adds twistingand writhing movements. http://www.hdfoundation.org hereditary disease foundation
Club Foot – Talipes- congenitally deformity of the foot which is twisted out of shape or position and The ligaments and tendons around the foot and ankle are tight when the baby is born, making the foot stiff : the most typical is the talipes equinovarus the heel is turned inward and the foot is plantar flexed, the foot arch is higher. Talipes equinovalgus the heel is elevated and turned outward talipes calcaneovalgus heel is turned outward and the anterior part of the foot is elevated; talipes calcaneovarus heel is turned outward and anterior part of foot is elevated; talipes cavus the longitudinal arch of the foot is abnormally high. http://www.clubfootclub.org/index.php
Crohn and Colitis are both forms of Inflammatory Bowel Disease (IBD) www.nacc.org.uk national association of Colitis and Crohn patients of all ages.
Cystic Fibrosis generalized disorder of infants, children and young adults with widespread dysfunction of the exocrine glands characterized by signs of chronic pulmonary disease due to excess mucus production of the respiratory tract. www.cfww.org worldwide internet site about CF treatment in 10 different languages
www.flowers-for-all.org in English and French. Flutter exercises with computer software
DCD Developmental Coordination Disorder. It is an impairment, an immaturity, or disorganisation of movement. Associated with this there may be problems with language, eye movements, perception, thought, specific learning difficulty, personality and behaviour, and variability. ( also known as: Clumsy Child Syndrome, Perseptuo-motor Dysfunction, Minimal Brain Dysfunction, Motor-learning Difficulty, Sensory-integrative Dysfunction, Spatial Problems, Visuo-motor Difficulties) http://www.hdcd.org.uk/htm/dcd/appendix_a_19.php http://www.cihr-irsc.gc.ca/e/30682.html Canadian institute of Health Sciences
Dermatomyositis disease of the connective tissue manifested by edema, dermatitis and weakness of the symmetric proximal muscles.
Diplegia - Diplegia is a form of CP primarily affecting the legs. Most children with CP have some problems with their arms but with Diplegia they are less involved. Most children with diplegia have spaticity, and have difficulty with balance and coordination. Delayed muscle growth and spasticity cause their leg muscles to be short, and as a result the joints become stiff and the range of motion can decrease as a child grows.1 The feet and ankles present more problems than the knees, and the hips may become dislocated. Many diplegic children were born prematurely and have had respiratory problems. Most have normal or near-normal learning abilities. Most diplegic children are eventually able to walk, though many begin walking late. http://formsofcerebralpalsy.com/diplegia.html http://www.livingwithcerebralpalsy.com/spastic-cerebral.php
Down Syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. This ccondition characterized by a smaller flattened skull, flat bridged nose, epicanthal fold (vertical fold of skin on either side of nose), short fingers, widened web space between digits one and two of both hands and feet, with moderate to severe mental retardation, and associated with a chromosomal abnormality, usually trisomy of chromosome 21. www.down-syndrome-int.org Down Syndrome International is a federation of international organizations and individuals committed to ensuring the quality of life and human rights for all people with Down syndrome.
Duchenne Muscular Dystrophy a chronic progressive disease affecting the shoulder and pelvic girdles, commencing in early childhood. Characterized by increased weakness, pseudo hypertrophy followed by atrophy, lordosis and a swaying gait. www.parentproject.org united parents for Duchenne muscular dystrophy research- connects to different parent organisations worldwide http://www.duchenne.nl/english/duchenne226.html article on the multidisciplinary management of Duchenne muscular dystrophy ( paediatrics 2005) http://www.mda.org.au/publication/guide/mdaguide.html http://www.mda.org.au/specific/mdadmd.html http://www.dmd.nl/nonscinl/biopt.html
Dysdiadochokinesia inability to immediately reverse a motor impulse.
Dyslexia reading disorder, sometimes hereditary or caused by brain damage. http://www.bdadyslexia.org.uk/ The BDA is the voice of dyslexic people.
A dyslexia friendly society that enables dyslexic people to reach their potential. http://www.audiblox2000.com http://www.interdys.org international dyslexia organization for study and treatment of dyslexia
Dysmetria is the impaired ability to control range of movement in a coordinated fashion.
Dysplasia abnormal development and change of tissues ( connective and organ tissue) caused by chronic irritation.
Dyspraxia Developmental dyspraxia is an impairment or immaturity of the organisation of movement. It is an immaturity in the way that the brain processes information, which results in messages not being properly or fully transmitted. The term dyspraxia comes from the word praxis, which means 'doing, acting'. Dyspraxia affects the planning of what to do and how to do it. It is associated with problems of perception, language and thought. http://www.dyspraxiafoundation.org.uk/ http://www.dyspraxia.org.nz/ http://www.dyspraxicteens.org.uk
Dystonia Dystonia is a neurologic condition that causes the muscles to contract and spasm involuntarily. The neurological mechanism that makes muscles relax when they are not in use does not function properly. Opposing muscles often contract simultaneously as if they are “competing” for control of a body part. The involuntary muscle contractions force the body into repetitive and often twisting movements as well as awkward, irregular postures and they can be painful sometimes.
Dystonia may be focal (affecting an isolated body part), segmental (affecting adjacent body areas, or generalized (affecting many major muscle groups simultaneously). There are many different causes for dystonia. Genetic as well as non-genetic factors contribute to all forms of dystonia. The most characteristic finding associated with dystonia is twisting, repetitive movements that affect the neck, torso, limbs, eyes, face, vocal chords, and/or a combination of these muscle groups.
http://www.dystonia-foundation.org http://www.rarediseases.org/
Dystrophy degenerative disorder caused by defective nutrition or metabolism. Muscular dystrophy, slow progressive muscular degeneration.
Early developmental disorders there are very many different developmental disorders and a number of them a listed on this site. A good screening is of utmost importance. Parents are often right in their suspicions that there is something wrong with their child. The health professional should try to help them to find out what is wrong and what can be done about it.
Ehlers-Danlos syndrome Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of heritable disorders of connective tissue, characterised by skin extensibility, joint hypermobility and tissue fragility. There are different types of EDS and these were reclassified into six major types in 1997.They are classified according to signs and symptoms with each type running true in a family thus an individual with one type will not have a child with a different type. Symptoms vary widely based on which type of Ehlers Danlos Syndrome (EDS) the patient has. In each case, however, the symptoms are ultimately due to faulty collagen. For example, in the most common type of EDS, Hypermobility Type, symptoms often include unstable, flexible joints with a painful tendency to dislocate and subluxate. This is due to ligaments which, because they are lacking proper collagen--the molecule that provides strength to ligaments--are overly stretchable. The so-called Classic EDS Type features skin that forms cigarette paper-like scars. Another type of collagen is usually responsible for lending strength to skin (and scars). http://www.ednf.org/ http://www.ehlers-danlos.org http://encyclopedia.thefreedictionary.com/ehlers+danlos+syndrome
Emery-Dreyfuss myopathy (EDM) Emery-Dreifuss muscular dystrophy is an X-linked degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreyfuss form from the Becker form
Encephalopathy Encephalopathy is a term for any diffuse disease of the brain that alters brain function or structure. Encephalopathy may be caused by infectious agent (bacteria, virus, or prion), metabolic or mitochondrial dysfunction, brain tumor or increased pressure in the skull, prolonged exposure to toxic elements (including solvents, drugs, radiation, paints, industrial chemicals, and certain metals), chronic progressive trauma, poor nutrition, or lack of oxygen or blood flow to the brain. The hallmark of encephalopathy is an altered mental state. Depending on the type and severity of encephalopathy, common neurological symptoms are progressive loss of memory and cognitive ability, subtle personality changes, inability to concentrate, lethargy, and progressive loss of consciousness. Other neurological symptoms may include myoclonus (involuntary twitching of a muscle or group of muscles), nystagmus (rapid, involuntary eye movement), tremor, muscle atrophy and weakness, dementia, seizures, and loss of ability to swallow or speak. Blood tests, spinal fluid examination, imaging studies, electroencephalograms, and similar diagnostic studies may be used to differentiate the various causes of encephalopathy.
Epilepsy Epilepsy is a brain disorder in which clusters of nerve cells, or neurons, in the brain sometimes signal abnormally. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. Epilepsy is a disorder with many possible causes. Anything that disturbs the normal pattern of neuron activity - from illness to brain damage to abnormal brain development - can lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, or some combination of these factors. Having a seizure does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. http://www.ldanatl.org/aboutld/professionals/epilepsy_ld.asp http://www.paceusa.org parents against childhood epilepsy http://www.epilepsyinstitute.org http://www.epilepsyfoundation.org
Fascioscapulaohumeral myopathy muscular disease with weakness in facial muscles, shoulder girdle muscles and foot extensors (especially the m. tibialis anterior ). In a later stage pelvic muscles can be affected also. Children have problems with lifting the arms, gait and they have poor facial expression. http://www.fshsociety.org
Fetal Alcohol Syndrome This typical syndrome can exist after excessive alcohol consumption of the mother during pregnancy. The child is smaller ( intra-uterine) has a small skull with typical features and mild mental retardation. http://www.faslink.org society for foetal alcohol disorders http://www.cps.ca/english/statements/FN/cps96-01.htm
Fibromyalgia generalized chronic condition which results in pain and rigidity in the muscles and the soft tissues. Sometimes seen in children. http://www.fmnetnews.com http://www.fmaware.org/site/PageServer
Flatfeet are feet with a flattened arch. Flat feet can contribute to other problems such as knee and hip pain and balance difficulties but in many cases no problems arise at all.
Fractures When children’s bones break they look similar to a broken green branch from a tree, hence the name "greenstick fractures". Adults bones tend to have a well-defined break. The bones of children and young adolescents contain "growing zones" called growth plates or epiphyses. Special care needs to be taken if the fracture site is near to one of these growth plates.
Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. http://www.nfxf.org http://www.fragilex.org/NFXF_Handbook_Single_pgs1.pdf handbook for parents and professionals
Genetic disorders There are many genetic disorders. A genetic disorder is a disease caused by a different form of a gene called a variation, or an alteration of a gene called a mutation. Many diseases have a genetic aspect. Some, including many cancers, are caused by a mutation in a gene or group of genes in a person's cells. The www.vsop.nl/engels.php is the english version of the Dutch genetic alliance site an umbrella organisation of 60 national disease-linked parent and patient organizations. Most of which are concerned with genetic and/or congenital disorders.
http://www.nlm.nih.gov/medlineplus/geneticdisorders.html http://ghr.nlm.nih.gov genetics for parents http://learn.genetics.utah.edu/units/disorders/whataregd
Growing pains are pains, generally in children’s or adolescent’s legs, often attributed to rapid growth. In the perception of natural therapists it can also be caused by a temporary magnesiumphosphoricum D6 deficit.
Guillain Barré syndrome Guillain-Barré syndrome is a disorder in which the body's immune system attacks part of the peripheral nervous system. The first symptoms of this disorder include varying degrees of weakness or tingling sensations in the legs. In many instances, the weakness and abnormal sensations spread to the arms and upper body. These symptoms can increase in intensity until the muscles cannot be used at all and the patient is almost totally paralyzed. In these cases, the disorder is life-threatening and is considered a medical emergency. The patient is often put on a respirator to assist with breathing. Most patients, however, recover from even the most severe cases of Guillain-Barré syndrome, although some continue to have some degree of weakness. Guillain-Barré syndrome is rare. Usually Guillain-Barré occurs a few days or weeks after the patient has had symptoms of a respiratory or gastrointestinal viral infection. Occasionally, surgery or vaccinations will trigger the syndrome. The disorder can develop over the course of hours or days, or it may take up to 3 to 4 weeks. No one yet knows why Guillain-Barré strikes some people and not others or what sets the disease in motion. What scientists do know is that the body's immune system begins to attack the body itself, causing what is known as an autoimmune disease. Guillain-Barré is called a syndrome rather than a disease because it is not clear that a specific disease-causing agent is involved. Reflexes such as knee jerks are usually lost. Because the signals traveling along the nerve are slower, a nerve conduction velocity (NCV) test can give a doctor clues to aid the diagnosis. http://www.hemophiliagalaxy.com/patients/resources/online.html http://www.wfh.org/index.asp?lang=EN http://www.gbs-cidp.org www.gbs.org.uk/index2.shtml http://www.gbs.org.uk/pdf/cidp.pdf http://www.nlm.nih.gov/medlineplus/ency/article/000684.htm
Headache children can suffer from headaches. Whether they're pounding and throbbing or dull and aching, headaches are no picnic for kids. A lot of the time, they're caused by something simple - such as staying up too late, playing in the sun too long, or taking a bump to the head. But sometimes, headaches last longer or are accompanied by other symptoms. Headaches can have a wide range of causes and many levels of severity. It's important to understand how to recognize when a headache is just a passing pain, and when it's something more and your child needs medical treatment. Two of the more common kinds of headaches that kids get are tension headaches and migraines. http://www.i-h-s.org international headache society http://www.who.int/mediacentre/factsheets/fs277/en headache factsheet of the WHO
Hemophilia is an inherited bleeding disorder. Blood contains many proteins, called clotting factors, which work to stop bleeding. People with hemophilia have a low level or absence of one of these clotting factors in their blood. The lack of clotting factor causes people with hemophilia to bleed for longer periods of time than people whose blood factor levels are normal. People with hemophilia do not bleed faster than other people, and will not bleed to death from a minor cut or injury. The main problem for people with hemophilia is bleeding internally, mainly into muscles and joints. www.wfh.org world federation of hemophilia http://www.cipast.org/ European haemophilia consortium
Hemiplegia is a type of cerebral palsy that results from damage to the parts of the brain that control muscle movements. This damage may occur before, during or shortly after birth. The term hemiplegia means that the paralysis is on one side of the body. A similar medical term, hemiparesis, means a weakness on one side of the body. In children with hemiplegia, the paralysis in the body occurs on the side opposite the affected part of the brain. For example, if the left side of the child's brain is injured, then the paralysis will be on the right side of the child's body. Symptoms may include: difficulty with fine motor tasks like writing or using scissors, difficulty with walking and balance , stiffness and weakness in muscles on one side of the body , seizures, delay in reaching expected developmental milestones such as rolling over, sitting up, crawling, or smiling and about one fourth of children with spastic hemiplegia may have an IQ below 70 http://www.hemi-kids.org
Hemiplegia Alterans Alternating hemiplegia is a rare neurological disorder that develops in childhood, usually before the first 4 years. The disorder is characterized by recurrent but temporary episodes of paralysis on one side of the body. The paralysis can affect eye movements, limbs, or facial muscles. One form of the disorder, identified very recently, has a favourable outlook. It occurs primarily at night, when a child awakens, and is apparently related to migraine. These children have no other mental or neurological impairments. In more serious cases symptoms may include mental impairment, balance and gait difficulties, excessive sweating, and changes in body temperature. Seizures can occur. Sleep helps in the recovery from the periods of paralysis but the paralysis can recur upon waking. The cause of the disorder is unknown. http://www.ahckids.org Alternating Hemiplegia of Childhood Foundation
Hirschsprung disease Hirschsprung's disease (HSCR) is characterized by the absence of particular nerve cells (ganglions) in a segment of the bowel. The absence of ganglion cells causes the muscles to lose their ability to move the stool through the intestine (peristalsis). Constipation occurs and obstruction of the colon becomes more obvious and perhaps painful. HSCR can occur as an isolated problem or as part of disorder that affects multiple organ systems. A brochure for parents http://www.hirschsprungs.info/ http://www.hirschsprungs.info http://www.familyvillage.wisc.edu:8000/lib_hirs.htm http://www.rarediseases.org/
Holoprosencephaly (HPE) is a congenital anomaly in which there is incomplete development of the brain. In utero, the developing forebrain (prosencephalon) fails to divide into two separate hemispheres and ventricles. Specifically, there is incomplete cleavage into right and left hemispheres; into the telencephalon and diencephalons; and into the olfactory and optic bulbs and tracts. Based on the level of cleavage, Holoprosencephaly is classified into 4 subtypes: Alobar, Semilobar, Lobar and MIHV.
This disorder consists of a spectrum of defects, malformations and associated abnormalities. Disability is based upon the degree in which the brain is affected. Moderate to severe defects may cause mental retardation, spastic quadriparesis, atheoid movements, endocrine disorders, epilepsy and other serious conditions. Whereas, mild brain defects may only cause learning or behavior problems with few motor impairments. www.holoprosencephaly.net
Hunter-Hurler Syndrome form of mucopolysaccharidosis resembling Hurlers syndrome without gibbus and generally milder symptoms. http://www.huntershope.org
Hurlers syndrome ( disease ) Hurler syndrome is a rare, inherited disease of metabolism in which a person cannot break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).Hurler syndrome belongs to a group of diseases called mucopolysaccharidoses, or MPS patients have specific facial disfiguration, dwarf stature and severe somatic and skeletal changes, including short neck and trunk, scaphocephaly , kyphosis with gibbus and severe mental retardation. www.mpssociety.org www.mpssociety.co.uk
Hydrocephalus abnormal accumulation of cerebrospinal fluid within the ventricles of the brain www.IFglobal.org The International Federation for Spina Bifida and Hydrocephalus (IF) is the world-wide umbrella organization (INGO) for Spina Bifida and Hydrocephalus organisations. IF aims to disseminate information and expertise throughout the world to families, individuals, professionals and volunteers involved in the Hydrocephalus and Spina Bifida field.
www.hydrocephalus.org The Hydrocephalus Foundation, Inc. (HyFI) is a registered, 501(c)(3) non profit organization dedicated to providing support, educational resources and networking opportunities to patients and families affected by hydrocephalus. The Foundation also promotes related research and facilitates the training of healthcare professionals to improve patient outcome.
hyperlaxity - benign joint hypermobility syndrome (B)HMS extra pliability in the connective tissue which can cause joint hypermobility. Some childrens´motor development is a little slower. www.hypermobility.org/diagnosis.php document on diagnostic criteria for (B)HMS www.kidsphysio.co.uk/ an english colleagues site on management of hypermobility. www.hyperlaxia.org lots of information even if it is not a current site at the moment
Hypertonia Hypertonia is a condition marked by an abnormal increase in muscle tension and a reduced ability of a muscle to stretch. It is caused by injury to motor pathways in the central nervous system, which carry information from the central nervous system to the muscles and control posture, muscle tone, and reflexes. When the injury occurs in children under the age of 2, the term cerebral palsy is often used. Hypertonia can be so severe that joint movement is not possible. Untreated hypertonia can lead to loss of function and deformity, it may result from injury, disease, or conditions such as spasticity, dystonia (prolonged muscle contractions that cause twisting and repetitive movements or abnormal posture), rigidity, or a combination of factors. Spastic hypertonia involves uncontrollable muscle spasms, stiffening or straightening out of muscles, shock-like contractions of all or part of a group of muscles, and abnormal muscle tone. It is seen in disorders such as cerebral palsy, stroke, and spinal cord injury. Dystonic hypertonia refers to muscle resistance to passive stretching (in which a therapist gently stretches the inactive contracted muscle to a comfortable length at very low speeds of movement) and a tendency of a limb to return to a fixed involuntary (and sometimes abnormal) posture following movement. It is seen is the different forms of dystonia and sometimes in parkinsonism. Rigidity is an involuntary stiffening or straightening out of muscles, accompanied by abnormally increased muscle tone and the reduced ability of a muscle to stretch. This type of hypertonia is most common in parkinsonism http://www.dystonia-foundation.org/ http://www.ucpresearch.orgnited Cerebral palsy Research & educational foundation
Hyperventilation Hyperventilation is rapid or deep breathing, usually caused by anxiety or panic. This overbreathing, as it is sometimes called, may actually leave you feeling breathless. When you breathe, you inhale oxygen and exhale carbon dioxide. Excessive breathing may lead to low levels of carbon dioxide in your blood, which causes many of the symptoms that you may feel if you hyperventilate.
Hypotonia is a medical term used to describe decreased muscle tone (the amount of resistance to movement in a muscle). It is not the same as muscle weakness, although the two conditions can co-exist. Hypotonia may be caused by trauma, environmental factors, or by genetic, muscle, or central nervous system disorders, such as Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find what causes hypotonia. Infants with hypotonia have a floppy quality or “rag doll” appearance because their arms and legs hang by their sides and they have little or no head control. Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, lethargy, ligament and joint laxity, and poor reflexes. Hypotonia does not affect intellect. However, depending on the underlying condition, some children with hypotonia may take longer to develop social, language, and reasoning skills. When hypotonia develops in the adult years, it may be due to diseases associated with cerebellar degeneration (such as multiple sclerosis, Friedreich’s ataxia, or multiple system atrophy) in which neurons in the cerebellum -- the area of the brain that controls muscle coordination and balance -- deteriorate and die.
Juvenil Rheumatoid Arthritis (JRA) a variety of disorders marked by inflammation, degeneration or metabolic derangement of the connective tissue structures of the bodies especially the joints and related structures including muscles, bursae, tendons and fibrous tissue. http://www.pedrheumonlinejournal.org/default.htm pediatric rheumatology journal online
Klippel-Feils syndrome Klippel-Feil Syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. The most common signs of the disorder are short neck, low hairline at the back of the head, and restricted mobility of the upper spine. Associated abnormalities may include scoliosis (curvature of the spine), spina bifida (a birth defect of the spine), anomalies of the kidneys and the ribs, cleft palate, respiratory problems, and heart malformations. The disorder also may be associated with abnormalities of the head and face, skeleton, sex organs, muscles, brain and spinal cord, arms, legs, and fingers. http://www.rarediseases.org more information at http://www.niams.nih.gov
Klinefelter syndrome condition characterized by infertility, variable degrees of masculinisation. www.aaksis.org is an American association for klinefelter syndrome for information and support.
Kyphosis, hunchback Kyphosis is a spinal deformity that can result from trauma, developmental problems, or degenerative disease. Kyphosis can occur at any age, although it is rare at birth. Adolescent kyphosis, also known as Scheuermann's disease, results from the wedging together of several consecutive vertebrae (bones of the spine). The cause of Scheuermann's disease is unknown.In adults, kyphosis can be a result of osteoporotic compression fractures (fractures caused by osteoporosis), degenerative disease (such as arthritis), or spondylolisthesis (slipping of one vertebra forward on another).Other causes of kyphosis include the following: Infection (such as tuberculosis) Neurofibromatosis, Connective tissue disorders, Muscular dystrophy , Spina bifida (a birth defect involving incomplete formation of part of the spine) ,Disk degeneration ,Certain endocrine diseases ,Paget's disease ,Polio ,Tumors.
Kyphosis can also be seen in association with scoliosis (an abnormal sideways curvature of the spine seen in children and adolescents). It can cause Mild back pain ,Fatigue ,Tenderness and stiffness in the spine ,Round back appearance and Difficulty breathing (in severe cases)
Leucodystrophy The leukodystrophies are a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath that insulates nerve cells. These disorders are progressive, meaning that they tend to get worse throughout the life of the patient http://www.ulf.org/whatis.html http://avoca.vicnet.net.au/~leuko
Leukemia is a malignant disease of the blood that originates in the bone marrow. Undifferentiated or immature white blood cells called blasts, tend to proliferate in the bone marrow. This eventually inhibits the production of normal blood cells. ALL Acute Lymphoblastic
Leukaemia is the most common form of pediatric leukaemia. The age of occurrence is between 2 - 6 years. http://www.leukemia-lymphoma.org
Limb Girdle Muscular dystrophy a slowly progressive form of muscular dystrophy affecting either sex and usually beginning in childhood, sometimes in maturity or later. It is characterized by weakness or wasting in the shoulder or pelvic girdle. Both Erb dystrophy and Leyden-Moebius dystrophy start with weakness in shoulder and/or pelvic girdle. http://www.kidshealth.org/
Marfan This rare disorder was discovered in 1896, by a French doctor named Antoine Marfan. It is an inherited connective tissue disorder that can affect many different parts of the body. Connective tissue is made up of proteins that act like glue to support your bones, blood vessels, nervous system, skin and internal organs. Individuals suffering from Marfan Syndrome have an abnormal biochemical makeup. The connective tissue in their bodies is not as stiff as it should be which affects the growth and development of their body.
Main Symptomsare: tall, long narrow face, long arms and legs, possible problems with other organs. http://www.marfanworld.org/ http://www.marfansyndrome.info/marfan-organizations.html
Mental Health disorders http://www.ffcmh.org federation of families for children’s mental health
Microcephaly is a neurological disorder where the baby’s head is much smaller than normal for an infant of the same age and sex. It may be associated with other conditions or syndromes. Children with microcephaly may have learning difficulties and delayed development.
Mucopolysaccharidoses The mucopolysaccharidoses are a group of inherited diseases in which a defective or missing enzyme causes large amounts of complex sugar molecules to accumulate in harmful amounts in the body's cells and tissues. This accumulation causes permanent, progressive cellular damage that affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development. The affected individuals may have normal intellect or may be profoundly retarded, may experience developmental delay, or have severe behavioural problems. Physical symptoms generally include coarse or rough facial features, thick lips, an enlarged mouth and tongue, short stature with a disproportionately short trunk (dwarfism), abnormal bone size or shape (and other skeletal irregularities), thickened skin, enlarged organs such as the liver or spleen, hernias, and excessive body hair growth. Most people with a mucopolysaccharidosis syndrome generally experience a period of normal development followed by a decline in physical and mental function. http://www.mpssociety.org
Muscular dystrophy of all the relatively rare neuromuscular disorders, 35% is congenital muscular dystrophy (CMD). Muscular dystrophy (MD) is a genetic disorder that gradually weakens the body's muscles. It's caused by incorrect or missing genetic information that prevents the body from making the proteins it needs to build and maintain healthy muscles. A child who is diagnosed with MD gradually loses the ability to do things like walk, sit upright, breathe easily, and move the arms and hands. This increasing weakness can lead to other health problems. There are several major forms of muscular dystrophy, which can affect a child's muscles in different levels of severity. In some cases, MD starts causing muscle problems in infancy, while in others, symptoms don't appear until adulthood. The different types of muscular dystrophy affect different sets of muscles and result in different degrees of muscle weakness. Duchenne muscular dystrophy is the most common and the most severe form of the disease Myotonic dystrophy, also known as Steinert's disease, is the most common adult form of muscular dystrophy, although half of all cases are diagnosed in people who are younger than 20 years Limb-girdle muscular dystrophy affects boys and girls equally. Typically, symptoms begin when kids are between 8 and 15 years old. Facioscapulohumeral muscular dystrophy can affect both boys and girls, and the symptoms usually first appear during the teen years. This form of muscular dystrophy tends to progress slowly. www.mda.org.au http://www.kumc.edu/gec/support/muscular.html genetic education centre on muscular dystrophy http://www.muscular-dystrophy.org
http://en.wikipedia.org/wiki/Muscular_Dystrophy_Associatio
http://www.mdff.org The Muscular Dystrophy Family Foundation was established in 1958 and it helps thousands of clients and families each year throughout all of the United States. www.enmc.org The ENMC is an international research support organization for neuromuscular disorders, including Spinal Muscular Atrophies, Duchenne Muscular Dystrophy, Congenital Muscular Dystrophies, CIDP and many others. http://www.kidshealth.org/
Myasthenia Gravis (pseudoparalytica) a disorder of neuromuscular function due to the presence of antibodies. Fatigue and exhaustion of the muscular system, either restricted to muscle group or generalized. http://www.myasthenia.org http://www.neuro.wustl.edu/
Neonatal respiratory distress syndrome Hyaline membrane disease; neonatal respiratory distress syndrome (RDS) is most commonly a complication seen in premature infants. The condition makes it difficult for them to breathe http://pennhealth.com/ency/article/001563.htm Neonatology on the web
Neurofibromatosis ( Van Recklinghausen ) is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. There are three types of neurofibromatosis: Type 1 (NF1) causes skin changes and deformed bones and usually starts at birth. Type 2 (NF2) causes hearing loss, ringing in the ears and poor balance. It often starts in the teen years. Schwannomatosis causes intense pain. It is the rarest type. There is no cure. Treatment is aimed at controlling symptoms. Depending on the type of disease and how bad it is, treatment may include surgery to remove tumors, radiation therapy and medicines.
www.neuromuscular.wustl.edu http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html
Neuromuscular disorders Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include: Amyotrophic lateral sclerosis,Multiple sclerosis , Muscular dystrophy ,Myasthenia gravis and Spinal muscular atrophy. www.neuromuscluar.wustl.edu and www.medlineplus.gov
NLD nonverbal learning disability. A lot of information can be found at
http://www.nlda.org The Nonverbal Learning Disorders Association. http://www.nldline.com
Osgood-Schlatter Disease ( osteochondrosis ) Osgood-Schlatter disease is a painful swelling of the bump on the front, upper part of the lower leg bone. This bump is called the anterior tibial tubercle.Osgood-Schlatter disease is thought to be caused by small, usually unnoticed, injuries caused by repeated overuse before growth of the area is complete. The disorder is seen most often in active, athletic adolescents, usually between ages 10 and 15. It is common in adolescents who play soccer, basketball, and volleyball, and who participate in gymnastics. Osgood-Schlatter disease affects more boys than girls. The main symptom is a painful swelling just below the knee on the front (anterior) surface of the lower leg bone. Symptoms occur on one or both legs.The person may have leg pain or knee pain, which gets worse with running, jumping, and climbing stairs.The area is tender to pressure, and swelling ranges from mild to very severe.
Osteogenesi imperfecta is a condition causing extremely fragile bones. (OI) is a congenital disease, meaning it is present at birth. It is frequently caused by defect in the gene that produces type 1 collagen, an important building block of bone. There are many different defects that can affect this gene. The severity of OI depends on the specific gene defect.OI is an autosomal dominant disease. That means if you have one copy of the gene, you will have the disease. Most cases of OI are inherited from a parent, although some cases are the result of new genetic mutations.A person with OI has a 50% chance of passing on the gene and the disease to their children.All people with OI have weak bones, which makes them susceptible to fractures. Persons with OI are usually below average height ( short stature). However, the severity of the disease varies greatly.The classic symptoms include: Blue tint to the whites of their eyes (blue sclera) ,Multiple bone fractures ,Early hearing loss (deafness) . Because type I collagen is also found in ligaments, persons with OI often have loose joints (hypermobility) and flat feet. Some types of OI also lead to the development of poor teeth.Symptoms of more severe forms of OI may include: Bowed legs and arms , Kyphosis (S-curve spine) and Scoliosis . www.oife.org
Osteomyelitis infection of bone and bone marrow generally caused by bacterial infections. The bone can become infected after a trauma. The infection is painfull and movement of the affected bone is difficult.
Osteopenia Osteopenia is a decrease in the amount of calcium and phosphorus in the bone. This can cause bones to be weak and brittle, and increases the risk for broken bones.During the last 3 months of pregnancy, large amounts of calcium and phosphorus are transferred from the mother to the baby so that the baby's bones will grow.A premature infant may not receive the proper amount of calcium and phosphorus needed to form strong bones. While in the womb, fetal activity increases during the last 3 months of pregnancy. This activity is thought to be important for bone development. Most very premature infants have limited physical activity, which may also contribute to weak bones.Very premature babies lose much more phosphorus in their urine than do babies that are born full term.A lack of vitamin D may also lead to osteopenia in infants. Vitamin D helps with the body absorb calcium from the intestines and kidneys. If babies do not receive or make enough vitamin D, calcium and phosphorous will not be properly absorbed. A liver problem called cholestasis may also cause problems with vitamin D levels.Diuretics or steroids can also cause low calcium levels.
Osteoporosis Osteoporosis occurs when the body fails to form enough new bone, or when too much old bone is reabsorbed by the body, or both. Calcium and phosphate are two minerals that are essential for normal bone formation. Throughout youth, your body uses these minerals to produce bones. If you do not get enough calcium, or if your body does not absorb enough calcium from the diet, bone production and bone tissues may suffer. As you age, calcium and phosphate may be reabsorbed back into the body from the bones, which makes the bone tissue weaker. This can result in brittle, fragile bones that are more prone to fractures, even without injury. Usually, the loss occurs gradually over years. Many times, a person will have a fracture before becoming aware that the disease is present. By the time this occurs, the disease is in its advanced stages and damage is severe. The leading causes of osteoporosis are a drop in estrogen in women at the time of menopause and a drop in testosterone in men. Women, especially those over the age of 50, get osteoporosis more often than men. Other causes include: Being confined to a bed , Bone cancer , Cushing syndrome, Excess corticosteroid levels due to on-going use of medicines for asthma, certain forms of arthritis or skin diseases, and COPD, Hyperthyroidism and Hyperparathyroidism White women, especially those with a family history of osteoporosis, have a greater-than-average risk of developing osteoporosis.
Ohtahara Syndrome Ohtahara Syndrome is the earliest form of the age dependant neo-natal epileptic encephalopathies and was first described by Dr. Ohtahara and colleagues in 1976. It is often defined as "Early Infantile Epileptic Encephalopathy (EIEE) with Burst-Suppression" or "Early Myoclonic Encephalopathy (EME)".
Little is know about the exact causes of Ohtahara, and it is important to remember that it is a syndrome with a definition as opposed to a disease in itself. Although children suffering from Ohtahara may initially have very similar symptoms, developmental problems and clinical test results, the underlying causes of their illness may differ considerably, and in many cases these causes may never be known. - http://www.ohtaharasyndrome.org
Pain is an unpleasant feeling provoked by and part of many diseases. Pain can be manageable, but also excruciating, it can be local, referred and total. In very young infants the cause of pain is very often difficult to find because the children cannot describe the pain. http://www.painclinic.org/ www.childpain.org special interest group of professional about pain in childhood
www.pediatric-pain.ca/ppl pain pediatric pain letter peer reviewed commentaries on pain, book reviews and related events
http://www.childsdoc.org/spring2002/chronicpain.asp article written by Disordersanesthesiologist, pain treatment center at Childrens Memorial Hospital.
http://www.nationalpainfoundation.org/
article from the national pain foundation.
www.pain.com site for professionals and consumers.. including pain library, news, ·ask the pain doctor· and pain clinics worldwide
Our canadian colleagues have started a newsletter on pain.
http://cppsg.squarespace.com/home/ . They are interested in sharing and aiding physiotherapists to find the best treatment possibilites. www.thepainweb.com is also a site with a lot of information for professionals.
Review about pain in children with CP http://www.aann.org/
http://www.fisioterapiauah.org/ article about measurement of pain in infants, children and adolescents- from policy to practice in English
Periventricular Leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect foetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head. http://www.rarediseases.org
Perthes ( Legg-Calve-Perthes) disease Legg-Calve-Perthes disease is when the ball of the thighbone in the hip doesn't get enough blood, causing the bone to die.Legg-Calve-Perthes disease occurs most frequently in boys 4 to 8 years old. While there are many theories regarding the cause of this disease, little is actually known. Without enough blood to the area, the bone dies. This causes the ball of the hip to collapse and become flat. Usually only one hip is affected, although it can occur on both sides. The blood supply returns over several months, bringing in new bone cells. These gradually replace the dead bone over 2 to 3 years. Knee pain (may be the only initial symptom) , Persistent thigh or groin pain , Wasting of muscles in the upper thigh , Apparent shortening of the leg, or legs of unequal length , Hip stiffness that restricts movement in the hip , Difficulty walking, walking with a limp (which is often painless) and Limited range of motion www.perthes.org.uk http://www.pediatric-orthopedics.com/Topics/Perthes/perthes.html http://orthoinfo.aaos.org/topic.cfm?topic=A00070
Plagiocephalia "a malformation of the head marked by an oblique slant to the main axis of the skull." However, more recently, the term has been applied to any condition characterized by a persistent flatten spot on the back or side of the head (also know as flat head syndrome). |
It is important to distinguish between abnormal head shape caused by positioning (or deformation) and abnormal head shape caused the premature closure of cranial sutures (know as craniosynostosis). Positional (or deformational) abnormal head shapes can be corrected without surgery (by repositioning or cranial orthoses). Synostotic abnormal head shapes may require surgery. |
Plexus Brachial Lesions– (O)PBL Nerve injury with symptoms recognisable after birth. The child’s arm may be limp with little to no muscle control, the child’s might have reduced sensation in the arm or hand. It is crucial that the exact extent of nerve injury is ascertained as soon as possible. http://brachialplexus.wustl.edu www.ubpn.org www.erbspalsy.ie and www.obstetricalpalsy.net
(post)Poliomyelitis contagious disease that attacks the central nervous system and causes paralysis of the muscles especially in the legs. http://www.poliocanada.ca http://www.ippso-world.org http://www.post-polio.org
Pompe disorder Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally.One type of Pompe disease, known as infantile onset, begins within a few months of birth. Infants with this disorder typically exhibit symptoms such as muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver and heart, and heart failure. Affected infants may also have poor feeding, failure to gain weight and grow at the expected rate (failure to thrive), and breathing problems. Most infants with Pompe disease cannot hold up their heads or move normally. As the disease progresses, swallowing may become difficult and the tongue may become abnormally enlarged (macroglossia). Most children with this form of Pompe disease do not survive beyond the age of 2. Other forms of Pompe disease are known as late onset and may not show signs and symptoms until childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset form of this disorder. Most individuals experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. www.pompe.com
Prader-Willi Syndrome is a congenital (present from birth) disease that involves obesity, decreased muscle tone, decreased mental capacity, and sex glands that produce little or no hormones. http://www.pwsausa.org Prader-Willi Syndrome Association
Prematurity child born prior to the thirty-seventh week of gestation. So-called preemies. http://www.preemies.org http://www.prematurity.org http://www.parentingpreemies.com/hhome2.aspx?n=Home http://www.neonatology.org
Primary Immune Deficiencies disorders and deficiencies of the immune system http://www.pia.org.uk Primary Immunodeficiency Association http://www.primaryimmune.org Immune Deficiency foundation http://www.ukpin.org.uk
Primary immunodeficiency network www.ipopi.org/sitemap.htm organisation about primary immune deficiencies www.info4po.org primary immunodeficiency resource centre
Quadriplegia ( paraplegia ) classification based on anatomic involvement with paralysis of all four limbs. http://www.apparelyzed.com/paralysis.html http://www.spinal.co.uk http://emsci.org European multicentre about spinal cord injury
Reflex Sympathetic Dystrophy also known as RSD, is a condition of burning pain, stiffness, swelling, and discoloration of the hand. Reflex sympathetic dystrophy includes other medical diagnoses, such as causalgia, Sudeck's atrophy, and shoulder-hand syndrome. Reflex sympathetic dystrophy occurs from a problem in the sympathetic (unconscious) nervous system that controls the blood flow and sweat glands in the hand and arm. The nervous system becomes overactive. A burning pain, swelling, and warmth are felt in the affected arm. If not treated, reflex sympathetic dystrophy can cause stiffness and a loss of use of the affected part of the arm. In some cases, the cause of reflex sympathetic dystrophy is unknown. Often, an injury can cause reflex sympathetic dystrophy. The symptoms may appear after a surgery. Other causes include pressure on a nerve, infection, cancer, neck disorders, stroke, or heart attack. These conditions can cause pain, which sets off the sympathetic reflex, causing symptoms of reflex sympathetic dystrophy. Nerve injuries may change the way the nerve impulses are sent, causing a "short circuit." http://orthoinfo.aaos.org/topic.cfm?topic=A00021
Rett Syndrome Rett syndrome is a childhood neurodevelopmental disorder that affects females almost exclusively The age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child appears to grow and develop normally. Then, gradually, mental and physical symptoms appear. Hypotonia (loss of muscle tone) is usually the first symptom. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak. Other early symptoms may include problems crawling or walking and diminished eye contact. The loss of functional use of the hands is followed by compulsive hand movements such as wringing and washing. The onset of this period of regression is sometimes sudden. Another symptom, apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech. Individuals with Rett syndrome often exhibit autistic-like behaviors in the early stages. Other symptoms may include toe walking; sleep problems; wide-based gait; teeth grinding and difficulty chewing; slowed growth; seizures; cognitive disabilities; and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.
http://www.rettsyndrome.org international Rett Syndrome Foundation
Scoliosis Scoliosis is a curving of the spine. The spine curves away from the middle or sideways. There are three general causes of scoliosis: Congenital scoliosis is due to a problem with the formation of vertebrae or fused ribs during prenatal development, Neuromuscular scoliosis is caused by problems such as poor muscle control or muscular weakness or paralysis due to diseases such as cerebral palsy, muscular dystrophy, Spina Bifida, and polio., Idiopathic scoliosis is of unknown cause, and appears in a previously straight spine. Idiopathic scoliosis in adolescents is the most common type. Some people may be prone to the curving of the spine. Most cases occur in girls. Curves generally worsen during growth spurts. Scoliosis in infants and juveniles are less common. They commonly affect a similar number of boys and girls. Scoliosis may be suspected when one shoulder appears to be higher than the other, or the pelvis appears to be tilted. Untrained observers usually can't notice the curving. Routine scoliosis screening is now done in middle and junior high schools. Many cases, which previously would have gone undetected until they were more advanced, are now being caught at an early stage. There may be fatigue in the spine after prolonged sitting or standing. Pain will become persistent if irritation results. The greater the initial curve of the spine, the greater the chance the scoliosis will get worse after growth is complete. Severe scoliosis (curves in the spine greater than 100 degrees) may cause breathing problems.T he spine curves abnormally to the side (laterally), Shoulders or hips appearing uneven, Backache or low-back pain and Fatigue Note: Kyphoscoliosis also involves abnormal front-to-back curvature, with a "rounded back" appearance. See kyphosis.http://www.scoliosis.org http://www.rad.washington.edu/mskbook/scoliosis.html
http://www.iscoliosis.com http://www.srs.org www.spinecor.com Site about a new treatment method ( active brace)
Shaken Baby Syndrome Shaken baby syndrome is a type of inflicted traumatic brain injury that happens when a baby is violently shaken. A baby has weak neck muscles and a large, heavy head. Shaking makes the fragile brain bounce back and forth inside the skull and causes bruising, swelling, and bleeding, which can lead to permanent, severe brain damage or death. The characteristic injuries of shaken baby syndrome are subdural hemorrhages (bleeding in the brain), retinal hemorrhages (bleeding in the retina), damage to the spinal cord and neck, and fractures of the ribs and bones. These injuries may not be immediately noticeable. Symptoms of shaken baby syndrome include extreme irritability, lethargy, poor feeding, breathing problems, convulsions, vomiting, and pale or bluish skin. Shaken baby injuries usually occur in children younger than 2 years old, but may be seen in children up to the age of 5. http://www.thinkfirst.org www.iafcs.com non profit association for safety awareness and injury prevention for children.
Sleep disorders Sleep problems are common in childhood. A distinction is made between problems in which polysomnography is abnormal (i.e., the parasomnias, sleep apnea and narcolepsy) and problems that are behavioral in origin and have normal polysomnography. The parasomnias--sleep terrors, somnambulism and enuresis--appear to be related to central nervous system immaturity and are often outgrown. Obstructive sleep apnea syndrome (OSAS) is frequently missed in children and can often be cured through surgery. Behavioral sleep problems may be overcome after parents make interventions. Physicians can be of great assistance to these families by recommending techniques to parents that have been shown to be effective. http://www.aafp.org/afp/20010115/277.html http://www.medem.com/MedLB/articleslb.cfm?sub_cat=14
Spina Bifida is a congenital disorder affecting the formation of the spine. About 75% of cases are called ‘Myelomeningocele’. The backbone and spinal canal do not completely form before birth causing a decrease or lack of function of the parts of the body controlled from or below the defect. Most defects occur in the lower lumbar or sacral areas of the back (the lowest areas of the spine) because this area is normally the last part of the spine to close during inter-utero development. Spina Bifida Occulta is without protrusion and with skin intact. www.IFglobal.org
Spinal cord injury ( tetraplegia, paraplegia ) is caused by damage to the spinal cord. It can be caused from a direct injury to the cord itself or from an indirect injury from damage to the bones, soft tissues, and blood vessels surrounding the spinal cord. Only about 5% of spinal cord injuries occur in children. Symptoms of a spinal cord injury vary depending on the location and severity of the injury. The main problem is weakness of muscles and loss of sensation at and below the level of the injury. http://www.apparelyzed.com/paralysis.html http://www.spinal.co.uk http://emsci.org http://members.aol.com/scsweb/private/scshome.htm http://v1.dpi.org/lang-en Disabled Peoples' International is a network of national organizations or assemblies of disabled people, established to promote human rights of disabled people through full participation, equalization of opportunity and development.
Spinal Muscular Atrophy (SMA) Werdnig-Hoffmann disease Spinal muscular atrophy is a group of inherited diseases that cause progressive muscle degeneration and weakness, eventually leading to death.Spinal muscular atrophy (SMA) is the second leading cause of neuromuscular disease. It is inherited as an autosomal recessive trait (a person must get the defective gene from both parents to be affected) and has an incidence of approximately 4 per 100,000 people.In its most severe form (SMA type I, also called Werdnig-Hoffman disease), infants are born floppy with weak, thin muscles and feeding and breathing problems. Their lifespan seldom exceeds 2 to 3 years. Infants with SMA type II have less severe symptoms during early infancy, but they become progressively weaker with time. Survival time with type II is longer, but the disease kills most of those affected while they are still children.SMA type III is the least severe form of the disease, and symptoms may not appear until the second year of life. Often, weakness is first noted in the shoulder muscles and proximal leg muscles. Weakness is progressive and will eventually become profound, but children with type III disease may survive into early adulthood.Rarely, SMA may begin in adulthood. This is usually a milder form of the disease. This form may be inherited in an autosomal dominant (only one copy of the gene is needed for the disease to occur) or autosomal recessive manner.Family history of spinal muscular atrophy is a risk factor for all types of the disorder.In an infant:Floppy infant,Very weak infant, Little spontaneous movement ,Lack of head control ,Feeding difficulty ,Breathing difficulty, progressive weakness (older infant to toddler) and in a child: Nasal speech ,Worsening posture and Frequent, increasingly severe respiratory infections http://www.fsma.org
http://www.neuro.wustl.edu/neuromuscular/synmot.html
spondylolysis and spondylolsthesis The most common cause of low back pain in adolescent athletes that can be seen on X-ray is a stress fracture in one of the bones (vertebrae) that make up the spinal column. Technically, this condition is called spondylolysis (spon-dee-low-lye-sis). It usually affects the fifth lumbar vertebra in the lower back and, much less commonly, the fourth lumbar vertebra. If the stress fracture weakens the bone so much that it is unable to maintain its proper position, the vertebra can start to shift out of place. This condition is called spondylolisthesis (spon-dee-low-lis-thee-sis). If too much slippage occurs, the bones may begin to press on nerves and surgery may be necessary to correct the condition. http://orthoinfo.aaos.org/topic.cfm?topic=A00053
Steinert myotonic dystrophy One of nine types of muscular dystrophy, a group of genetic, degenerative diseases primarily affecting voluntary muscles. Generalized weakness and muscle wasting first affecting the face, lower legs, forearms, hands and neck, with delayed relaxation of muscles after contraction common. Other symptoms involve the gastrointestinal system, vision, heart or respiration. Learning disabilities occur in some cases. Congenital myotonic dystrophy is the more severe form. http://www.mda.org/disease/dm.html
Sudden Infant Death Syndrome SIDS Sudden, unexplained death of an apparent healthy infant during sleep the cause of which remains unknown. The following factors increase the risk of SIDS: Babies who sleep on their stomachs ,Babies who sleep in the same bed as their parents ,Babies who have soft bedding in the crib ,Multiple birth babies ,Premature babies ,Babies with a sibling who had SIDS ,Mothers who smoke or use illegal drugs ,Teen mothers ,Short time period between pregnancies ,Late or no prenatal care and Situations of poverty .SIDS affects boys more often than girls. While studies show that babies with the above risk factors are more likely to be affected, the impact or importance of each factor is not well-defined or understood. www.sids.org www.sidscenter.org
Tethered Spinal Cord Syndrome Tethered spinal cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column and they can cause an abnormal stretching of the spinal cord. The disorder is progressive. In children, symptoms may include lesions, hairy patches, dimples, or fatty tumors on the lower back; foot and spinal deformities; weakness in the legs; low back pain; scoliosis; and incontinence. Tethered spinal cord syndrome may go undiagnosed until adulthood. Tethered spinal cord syndrome appears to be the result of improper growth of the neural tube during fetal development, and is closely linked to spina bifida. Tethering may also develop after spinal cord injury and scar tissue can block the flow of fluids around the spinal cord. Fluid pressure may cause cysts to form in the spinal cord, a condition called syringomyelia. This can lead to additional loss of movement, feeling or the onset of pain or autonomic symptoms. http://www.asap.org American Syringomeyelia Alliance
Tetraplegia paralysis of the four extremities quadriplegia classification based on anatomic involvement with paralysis of all four limbs. http://www.apparelyzed.com/paralysis.html http://www.spinal.co.uk http://emsci.org European multicentre about spinal cord injury
Torticollis or Wry neck describes a condition where a tight sterno-mastoid muscle in one side of the neck limits a child’s neck movements. This can be the result of problems in the muscle itself; an ischemic process in the muscle, or a problem from neighbouring areas such as; a subluxacion of one of the neck vertebrae, a neck hernia, a paralysis of one of the eye muscles and/or loss of hearing on one side ( positioning head differently) and the deformity of Sprengel and Klippel-Feil.
Tourette Syndrome Tourette syndrome (TS) is a neurological disorder characterized by repetitive, stereotyped, involuntary movements and vocalizations called tics. The first symptoms of TS are almost always noticed in childhood. Some of the more common tics include eye blinking and other vision irregularities, facial grimacing, shoulder shrugging, and head or shoulder jerking. Perhaps the most dramatic and disabling tics are those that result in self-harm such as punching oneself in the face, or vocal tics including uttering swear words or echolalia (repeating the words or phrases of others). Many with TS experience additional neurobehavioral problems including inattention, hyperactivity and impulsivity, and obsessive-compulsive symptoms such as intrusive thoughts/worries and repetitive behaviours http://tsa-usa.org Tourette Syndrome Association
Traumatic Brain Injury (TBI) also called acquired brain injury (ABI) or simply head injury, occurs when a sudden trauma causes damage to the brain. TBI can result when the head suddenly and violently hits an object, or when an object pierces the skull and enters brain tissue. Symptoms of a TBI can be mild, moderate, or severe, depending on the extent of the damage to the brain. A person with a mild TBI may remain conscious or may experience a loss of consciousness for a few seconds or minutes.they may have a headache, confusion, lightheadedness, dizziness, blurred vision or tired eyes, ringing in the ears, bad taste in the mouth, fatigue or lethargy, a change in sleep patterns, behavioural or mood changes, and trouble with memory, concentration, attention, or thinking. A person with a moderate or severe TBI may show these same symptoms, but may also have a headache that gets worse or does not go away, repeated vomiting or nausea, convulsions or seizures, an inability to awaken from sleep, dilation of one or both pupils of the eyes, slurred speech, weakness or numbness in the extremities, loss of coordination, and increased confusion, restlessness, or agitation. Approximately half of severely head-injured patients will need surgery to remove or repair ruptured blood vessels or contusions (bruised brain tissue). Disabilities resulting from a TBI depend upon the severity of the injury, the location of the injury, and the age and general health of the individual. Some common disabilities include problems with cognition (thinking, memory, and reasoning), sensory processing (sight, hearing, touch, taste, and smell), communication (expression and understanding), and behavior or mental health (depression, anxiety, personality changes, aggression, acting out, and social inappropriateness). http://www.braintrauma.org
Torticollis toniclonic spasm of the muscles of the neck ( sternocleidomastoid muscle ) that causes cervical torsion and immobility of the neck
Turner Syndrome Turner syndrome is a neurogenetic disorder characterized by partial or complete monosomy-X. It is associated with certain physical and medical features, including oestrogen deficiency, short stature, and increased risk for several diseases, with cardiac conditions being among the most serious. The cognitive-behavioural phenotype associated with the syndrome includes strengths in verbal domains with impairments in visuo-spatial, executive function, and emotion processing.Many studies indicate that girls with TS have a disharmonic IQ profile: a verbal IQ that seems to be at a (nearly) normal level and a decreased PIQ. This profile remains into adulthood. Visual-spatial problems are mentioned most frequently and there is some evidence for a relationship to particular neuro-anatomical structures, hormonal dysfunction, and genotype. http://www.turnersyndrome.org/dmdocuments/TSfamily_guide092502B.pdf
Ventricular Septal Defect VSD most prevalent heart disease in children Small defects in the septum between both ventricles do not give problems, they often shut spontaneously and are generally not treated. Big defects can cause decompensatio cordis even at a very young age. These children are susceptible for airway infections and a chronic failure-to-thrive sometimes with a slower motor development. The older children are often very tired.