Disabilities affect people in many different ways and may restrict a person's mobility, the function of
their senses, their social awareness or their cognitive ability.
Disabilities may be physical, intellectual, psychiatric, sensory or neurological and can result from a
wide range of factors – from genetic
anomalies and defects to traumatic life events such as accidents, illness and disease.
A person with a disability may need some form of support in order to fully engage with their communities,
meet the responsibilities of their employment, or live a fulfilling, independent life.
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A chromosomal disorder with both physical and intellectual disability, some heart defects and atypical facial features.
A chromosomal disorder with a broad range of symptoms from no obvious problems to profound physical and mental difficulties.
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A chromosomal condition characterised by short stature and broad facial features with muscular, genitourinary and visual difficulties. There may also be some intellectual disability.
A rare disorder of the mid section of the brain which fails to develop. Symptoms may vary from little or no intellectual disability to severe.
A rare form of leukodystrophy which presents with severe physical and intellectual disability. Life expectancy is 5-6 years.
A condition where the child is born with no brain or skull bones and rarely lives past the first month of life.
This neurological disorder results from an abnormality on chromosome 15. The main clinical features are a characteristic facial appearance, jerky puppet-like type movements and prolonged bouts of laughter. Developmental delay, behavioural difficulties and intellectual disability are likely.
This syndrome is characterised by specific malformations of the skull, midface, hands, and feet. There may or may not be an intellectual disability.
The mildest form of the developmental disorders on the autism spectrum that has symptoms that range in severity.
These disorders are lifelong neurodevelopmental disabilities and are characterised by impairments of reciprocal social interaction, impairment of verbal and non-verbal communication skills, stereotyped behaviours, and restricted or obsessive interests.
Autistic spectrum disorders have an age of onset of 36 months or less, except for some cases of Childhood disintegrative disorder, which may have a later onset.
Despite the many subdivisions of autistic spectrum disorders, the clinical picture varies from one person to the other depending on age, gender, IQ level and personality. In addition, characteristics of people in the first three groups often overlap.
Prevalence rates for autism are estimated at one in 1000, a similar rate for PDDNOS, and one in 300, for Asperger syndrome. Four out of every five people with these disorders are male although Asperger Syndrome may be under diagnosed in females.
Children with autism become adults with autism although many symptoms improve with age. Development of epilepsy and psychiatric disorders in adolescence can also compromise the usual improvement that comes with maturity.
The best outcomes occur in those with higher IQs, language development before five years and development of appropriate social behaviour.
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A degenerative disease of the neurological system resulting in seizures and a decline in visual acuity, cognitive and motor skills.
A rare congenital growth disorder which features enlarged tongue, typical facial features and increased growth of various parts of the body. Intellectual disability may be present.
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A rare congenital condition characterised by distinctive facial appearance, growth delays and varying degrees of intellectual disability.
Cerebral Palsy is the result of faulty development or injury to the part of the brain that controls muscles and joints. There may be an intellectual disability.
An acronym for the numerous effects of this condition: coloboma of the eye, heart defects, atresia of the choanae, retardation, genital and urinary defects and ear abnormalities.
A rare syndrome characterised by poor muscle movement, obesity in childhood, particular facial features and mild to moderate intellectual disability.
Rubella infection in childhood usually presents no serious complications, but if caught by a woman in the early stages of pregnancy may cause miscarriage, stillbirth or serious health problems for the affected foetus.
The term ‘Congenital Rubella Syndrome’ is used to describe the range of health problems that may be present at or around the time of birth. The effects of Congenital Rubella vary depending on what stage of pregnancy the infection was contracted and how invasive it has been.
A rare congenital condition characterised by small stature, small head, bushy eyebrows that may meet in the center, poor muscle tone and moderate to severe intellectual disability.
This syndrome is characterised by the cat-like or mewing sound made by the child. Other features are microcephaly, failure to thrive and intellectual disability.
A congenital condition where parts of the skull bones are fused together causing intellectual disability, difficulties with breathing, feeding and vision.
The cytomegalovirus is part of the herpes virus family. If the mother catches the virus during pregnancy it may be passed onto the foetus. Symptoms such as intellectual and physical disability, visual and hearing difficulties may develop.
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Down Syndrome is the commonest recognisable cause of intellectual disability.
In 90% of cases, it is caused by an extra copy of chromosome 21 in each cell of the body. The other 10% have three copies of this chromosome as a percentage of their cells (mosaic Down Syndrome) or all or part of chromosome 21 attaching itself to other chromosomes.
Down Syndrome is recognisable at birth because of its well-known physical typical characteristics. A tentative visual diagnosis is usually confirmed by chromosome analysis.
This syndrome has an incidence of around one in 700 live births and has traditionally been associated with older mothers.
While the chance of having a child with Down Syndrome increases markedly with maternal age, most children with Down Syndrome are born to mothers in their twenties as it is this group which gives birth to 95% of all babies.
There are many medical issues related to Down Syndrome, so health screening is advisable at regular intervals from infancy to adulthood.
Dubowitz syndrome is defined by three main characteristics: low birth weight, microcephaly and distinctive facial features although there are a wide variety of other symptoms that may also present. Intellectual disability may or may not be present.
Duchenne’s is a hereditary and degenerative condition of the voluntary muscles and is characterised by a weakening and wasting of the muscles. There may be some intellectual impairment.
A neurological disorder which affects the way that the brain processes information, resulting in messages not being properly or fully transmitted. It is associated with problems of perception, language and thought, and affects each person in a different way.
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An inflammation of the brain caused by a viral infection which can be life threatening. Intellectual disability may result depending on the part of the brain affected.
This condition occurs when there is an
'Rh' incompatibility between mother and her newborn. There is a wide range of symptoms from mild jaundice to failure to thrive and severe intellectual disability.
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Common features of this syndrome include poor muscle tone, vision and hearing disturbances, genital and respiratory problems. There may be some intellectual disability.
This rare genetic disorder is characterised by extra bone formation over muscle, joints and ligaments. Other features include abnormalities of fingers and thumbs, deafness and mild intellectual disability.
As a result of prenatal exposure to alcohol the child may have delayed growth, developmental delay and intellectual disability and atypical facial features including small slanted eyes and a smooth indentation of the upper lip.
Fragile X Syndrome is the leading cause of inherited intellectual disability, specific learning disabilities and behaviour problems. This syndrome gets its name from a fragile site on the X Chromosome.
Under a microscope, the tip of the X chromosome looks as if is about to fall off. Fragile X affects around one in 1000 males and one in 2500 females. However one in every 250 women carries the gene for Fragile X, which puts them at risk for having children with intellectual disability.
Symptoms of Fragile X include autistic like behaviours, learning disabilities ranging from mild difficulties with academic subjects to intellectual disability, and some physical characteristics such as a long narrow face, prominent jaw, and large ears.
As many people with no chromosome anomalies have these features, Fragile X can be hard to detect without genetic testing.
This rare disorder is characterised by a broad range of irregularities that affect the head and face particularly a vertical groove down the middle of the face, widely spaced eyes and nasal abnormalities. Intellectual disability may also be present.
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Goldenhar Syndrome is present at birth and occurs mainly in males. It presents with a wide variety of abnormalities involving the skeletal, cardiac and central nervous systems. There may be varying degrees of hearing loss and intellectual disability.
This is a rare genetic disorder occurring predominantly in females. The main feature is distinctive skin abnormalities with a wide variety of others including the eyes, teeth, central nervous system, skeletal, urinary, gastrointestinal and cardiovascular systems. Intellectual disability may be present.
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This is a lysosomal storage disease (Mucopolysaccharide Type II) with onset in infancy and which occurs predominately in males. Common features are short stature, visual and hearing impairment, chronic diarrhoea, atypical facial features, joint stiffness and intellectual disability.
Huntington’s disease is an inherited condition that generally occurs between the ages of 35-50 and affects physical, cognitive and emotional abilities.
Hurler Syndrome is a lysosomal storage disease (Mucopolysaccharide type I) affecting both sexes with onset in infancy or early childhood. After a period of normal growth there is a progressive deterioration in physical and intellectual abilities. Death usually occurs in childhood.
Hurler-Scheie is a lysosomal storage disease (Mucopolysaccharide type I). The symptoms of this condition are less severe than Hurler’s but more severe than Sheie’s. Onset for this condition is generally around 3-8 years and presents with mild facial deformities, corneal clouding, joint stiffness and shortness of stature. Hydrocephaly and intellectual disability may be present.
Hydrocephalus is an excess of the cerebrospinal fluid that surrounds the brain causing an enlargement of the head.
A thyroid hormone deficiency in prenatal life or early infancy results in a wide range of physical and intellectual development.
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A chromosomal disorder characterised by specific facial features, heart problems, speech difficulties and intellectual disability.
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So named because of the similarity of Japanese makeup artists, Kabuki Syndrome is characterised by distinctive facial features, skeletal abnormalities and intellectual disability.
This syndrome occurs in males who have an extra X chromosome. They are usually tall, with small testes, little hair and enlarged breasts,
and may have a mild intellectual disability.
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A rare disorder of childhood that is often misdiagnosed. It is characterised by loss of speech and abnormal electroencephalograms.
Laurence-Moon is an inherited disorder affecting vision, kidneys and the pituitary gland. There may be some muscle spasticity and intellectual disability.
This disorder is characterised by developmental delay, seizures, hypotonia and a progressive deterioration of neurological function. Death usually occurs in the first few years of life.
This is the most severe form of childhood epilepsy characterised by frequent seizures of differing types. Intellectual disability may be present.
An enzyme deficiency disorder which predominately affects males. Symptoms are cataracts, generalised muscle weakness, kidney malfunction and intellectual disability.
A group of more than 45 rare inherited diseases where material is stored in cells because the cellular recycling function is deficient. About one half of these diseases can lead to intellectual disability that may range from mild to severe in its impact on the child.
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Macrocephaly is an increase in the development of the brain usually associated with a number of other disorders.
Mannosidosis is a very rare lysosomal storage disease which has some similarities to the mucopolysaccharide diseases.
Mannosidosis takes its name from the enzyme alpha-mannosidase which is defective. Without the enzyme, used materials cannot be completely broken down and remain stored in the body causing progressive damage to cells resulting in progressive mental and physical deterioration.
Babies may show little sign of the disease, but as more and more cells become damaged, symptoms start to appear.
This a lysosomal storage disease (Mucopolysaccharide type VI), the rarest of the mucopolysaccharide disorders, the main features of which are onset typically around
three years of age, short stature, visual impairment, joint stiffness and coarsening of the facial features. There may be intellectual disability.
Meningitis is an inflammation of the lining of the brain caused by a bacterial or viral infection. Complications include hearing loss, visual impairment, brain damage and behavioral changes.
An enzyme deficiency disorder that has three forms – congenital, adolescent and adult. The main features are normal development followed by deterioration in sight, speech, swallowing, muscle weakness, and intellectual capability.
Microcephaly is a decrease in the development of the brain usually associated with a number of other disorders.
A genetic disorder characterised particularly by muscle stiffening after use. It also affects the endocrine glands, central nervous system, heart, and eyes. There may be an intellectual disability.
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Neurofibromatosis is a genetic disorder affecting the nervous system. It is characterised by café- au-lait skin pigmentation, short stature, bone tumours and intellectual disability.
The main features of this syndrome are short stature, widely spaced eyes, delayed puberty, heart defects, and a characteristic chest deformity. There may be an intellectual disability.
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An inherited disorder where there is an enzyme deficiency which affects brain development which if not treated results in intellectual disability.
Prader-Willi Syndrome (PWS) is a complex disorder. It occurs in all races and both sexes.
In 1956, Swiss doctors Prader, Willi and Labhart published a study of floppy babies with certain characteristics. Following the usual practice of identification, the syndrome was named for the researchers.
PWS has been described as a two-stage syndrome. In the first, or
'failure to thrive' stage, weight gain is slow and developmental milestones (both physical and intellectual) are delayed. The baby tends to be
'floppy' due to low muscle tone.
The second stage, 'thriving too well' emerges as muscle tone improves. A compulsion to eat and an obsession with food usually appear between the ages of two and four, but sometimes later.
Without environmental controls, serious weight gain occurs in 95% of children. As this second stage evolves, behaviours such as tantrums, stubbornness and mood change may also become evident.
Primary features:
- Hypotonia (lack of muscle tone) in the young child
- Hypogonadism (incomplete development of sexual characteristics)
- Developmental delays, cognitive dysfunction (in many cases more characteristic of learning disabilities)
- Central nervous system dysfunction (includes an insatiable appetite that leads to obesity if not controlled)
Physical Characteristics:
Some common physical characteristics appear in most individuals with PWS. Among these are:
- Narrow forehead
- Short stature (as adults)
- Almond-shaped eyes
- Down-turned mouth with thin upper lip
- Small hands and feet (more obvious in adulthood)
Although as a group they look remarkably like one another, individually they do not look unusual or different from the general population and most have some family characteristics.
Each person with PWS is an individual and may not have all the typical signs and symptoms.
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Rett syndrome is a neurological disorder, seen almost exclusively in girls.
Development is normal for 6-30 months of ages. A period of regression or stagnation follows during which time the child looses communication skills and the purposeful use of her hands. Then head growth slows, and stereotyped hand movements appear along with gait disturbances if the child has already learned to walk.
Other problems may include, crying jags, seizures and disorganised breathing patterns. The most disabling aspect of Rett syndrome is dyspraxia, or the inability of the brain to tell the body what to do. Because of dyspraxia and the lack of verbal skills, assessment of intelligence is impossible, as all presently known testing methods require either some level of speech or purposeful movement.
However, the bright eyed and alert look of many girls with Rett syndrome leads some people to believe that that the level of intellectual functioning is higher than it appears.
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This is a lysosomal storage disease (Mucopolysaccharide type III) characterised by severe intellectual disability, short stature, stiff joints and particular facial features.
Scheie Syndrome is the mildest form of the mucopolysaccharide disorders. It normally presents between 4-5 years of age and affects both sexes. The main characteristics are some visual impairment, broad mouth, joint stiffness and excessive body hair.
The main features of this disorder are the characteristically bird-like head with large eyes, a beak like nose and a small jaw. Intellectual disability with short stature and failure to thrive are also present.
The main features of this disorder are a significantly enlarged head and advanced bone growth but with delayed development. Intellectual disability is variable.
The main characteristics of this congenital disorder are a ‘port wine’ stain facial birthmark and angiomas on the covering of the brain, which create seizures. There may be an intellectual disability.
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This syndrome is characterised by the involuntary muscular spasms, vocal repetitions and behavioural problems.
This rare chromosomal disorder is characterised by particular facial features, growth deficiency, intellectual disability and skeletal abnormalities. Heart defects may be present.
This congenital condition is characterised by the cleft palate, cardiac and renal defects, respiratory difficulties, deafness and severe intellectual disability. Life expectancy is extremely limited.
Trisomy 16 is the most common of the chromosome 16 disorders and is incompatible with life. It is generally believed that trisomy 16 is responsible for a significant number of miscarriages in the US.
There are three types within this syndrome –full, mosaic and partial. Children with full trisomy 18 do not generally live past infancy whereas those with mosaic and partial may live to adulthood. The main features are delayed growth, low set malformed ears, hernias, skeletal abnormalities and intellectual disability.
There are two types recognised in this disorder – TSC 1 and TSC 2. The main features are calcified growths in the brain, white patchy skin, butterfly shaped rashes on the face and learning difficulties. Epileptic seizures and intellectual disability may also present.
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Velocardiofacial syndrome (VCFS) is a disorder that has been associated with over thirty different features. The name velocardiofacial syndrome comes from the Latin words
'velum' meaning palate, 'cardia'
meaning heart and 'facies' having to do with the face.
Not all of these identifying features are found in each child who is born with VCFS. The most common features are cleft palate (opening in the roof of the mouth), heart defects, characteristic facial appearance, minor learning problems and speech and feeding problems.
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The main features of this disorder are an elfin type facial features, delayed physical and intellectual growth and heart abnormalities.
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