Epilepsy & Autism
Autism is a complex developmental disability which typically presents during the first 3 years of life. It is the result of a neurological disorder which affects the functioning of the brain.
Autism and its associated behaviours have been estimated to occur in as many as 1 in 500 individuals. It is 4 times more likely to occur in boys as girls.
Autism impacts the typical development of the brain in areas of social interaction and communication skills.
Persons with autism typically have difficulty with verbal and non-verbal communication, social interactions, and leisure or play activities. Some may tend towards aggression or self-injury. Some may exhibit repeated body movements (hand flapping, rocking), unusual responses to people, unusual attachments to objects and resistance to changes in routines.
Autism Spectrum Disorders
Autistic Disorder
This diagnosis usually applies to children less than 3 years of age who have impairments in social interaction, communication, and imaginative play. They tend to show stereotyped behaviours, interests, and activities.
Asperger's Disorder
This disorder involves impairments in social interactions and the presence of restricted interests and activities, with no clinically significant general delay in language, and testing in the range of average to above average intelligence.
Pervasive Developmental Disorder
A diagnosis of PDD may be made when a child does not meet the criteria for a specific diagnosis, but there is a severe impairment in specific behaviours.
Rett Syndrome
To date, Rett syndrome has occurred in only girls. After a period of normal development, beginning between 1 to 4 years of age, previously acquired skills are lost and the use of the hands is replaced with repetitive movements. This is a progressive disorder — it continues to worsen.
Child Disintegrative Disorder
This disorder is characterized by normal development for at least the first 2 years, followed by significant loss of previously acquired skills.
The majority of persons with autism do not experience seizures. However, they are at a higher risk of seizures if they have specific neurologic conditions, such as tuberous sclerosis, neurofibromatosis (1), or untreated phenylketonuria (2).
Infantile spasms may occur in association with autism, often in young children with tuberous sclerosis or other significant neurologic problems.
Other forms of epilepsy including complex partial seizures, generalized tonic-clonic seizures, and (more rarely) absence seizures occur in children with autism.
The incidence of seizures in persons with autism increases when they reach puberty. Approximately 25-30% of adolescents with autism have been reported to develop seizures.
Notes
1) Neurofibromatosis is a familial condition characterized by developmental changes in the nervous system, muscles, bones and skin, and marked superficially by the formation of multiple pedunculated ["on a short stalk"] soft tumours (neurofibromas) distributed over the entire body associated with areas of pigmentation.
Also called: multiple neuroma, neuromatosis, and von Recklinghausen's disease.
2) Phenylketonuria is an inborn error of metabolism attributable to a deficiency of or a defect in phenylalanine hydroxylase, the enzyme which catalyzes the conversion of phenylalanine to tyrosine. This lack permits an accumulation of phenylalanine and its metabolites in body fluids which causes mental retardation, neurologic problems (including seizures), light pigmentation, eczema and a mousy odour. The disorder is transmitted as an autosomal recessive trait.
Phenylalanine is a naturally occuring amino acid, essential for optimal growth in infants and for nitrogen equilibrium in adults.
