Autism - A Short Overview

Autism is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior. It was first introduced by E. Bleuler in 1911, in his work Dementia praecox oder die Gruppe der Schizofrenie to characterize young adult schizophrenics. In his paper, the patients lost contact with reality by having great difficulties to communicate with other people. However, nowadays the term is characterized by the autistic spectrum, which is different from infantile schizophrenia. Autism was described by Kanner as the inability of a child to establish contact with the environment. There are a few clinical signs specific to autism: extreme isolation, stereotypical gestures, communication problems (the child cannot communicate at all or has a poor vocabulary), echolalia (stereotypical repetition of words), poor eye contact, loss of previously acquired language, etc. 

The autism spectrum contains five forms of disorders:

Classic Autism

Causes: genetic, certain prenatal risk factors, prenatal viral infection, teratogens that cause birth defects, etc. 

Symptoms: problems in communication (verbal and nonverbal), repetitive behaviors, inability for social interaction, etc. These can be observed by 18 months of age. 

Rett Syndrome

Causes: mutation in the methyl CpG binding protein 2, or MECP2 gene; but not everyone who has an MECP2 mutation has this syndrome. Other cases may be caused by partial gene deletions, mutations in other parts of genes, or additional genes that have not been yet identified.

Affects females more commonly than males (almost exclusively). It is characterized by: loss of purposeful use of hands, distinctive hand movements, slowed head growth, seizures, and intellectual disability.

There are four stages of Rett Syndrome:  

Stage 1 – symptoms may be vague: less eye contact, reduced interest in toys, decreased head growth, etc. The stage can last for a few months to a year.

Stage 2 – begins between ages 1 and 4 and is pretty rapid. It is characterized by: loss of social interaction and communication, unsteady walking, stereotypical hand movements, noticeable slow head growth, etc.

Stage 3 – begins between ages 2 and 10 and it’s characterized by: apraxia, motor problems, seizures, etc. However, the children can show improvement in communication and social interaction.

Stage 4 – can last for years and decades and it’s characterized by: reduced mobility, scoliosis, muscle weakness, rigidity, spasticity, abnormal posturing, walking problems for those who were able to walk in early stages, etc.

Treatment: there is no treatment for Rett syndrome, only symptomatic treatment focused on breathing irregularities, motor difficulties and anticonvulsant drugs for seizures.

Prognostic: although there are cases of people in their 40’s and 50’s with the disorder, there aren’t many studies that show life expectancy beyond age 40.

Source

Atypical Autism (PDD-NOS) – the patient has a few symptoms of autism. It is characterized by impairment of language development, social behavior and creative and imaginative skills. There are no general symptoms for atypical autism as not all patients share the same symptoms. Some will socialize partially, others will have problems understanding what is communicated to them, etc.

People might consider atypical autism as a milder form of autism but this is not always the case. Some patients diagnosed with atypical autism can have more severe characteristics. 

Treatment: there is no treatment and medication is used for symptoms like behavioral problems. Early therapy with children can play a critical role in the child’s development.

Childhood Disintegrative Disorder (Disintegrative psychosis, Heller syndrome) is a rare condition characterized by dramatic loss of previously acquired skills in: language, social skills, motor skill, bowel or bladder control, etc. 

Most children with this condition will have similar symptoms with severe autism by the age of 10.

Treatment can include: medication and behavioral therapy. However, the outlook is poor.

Asperger Syndrome – unlike children with autism, children with Asperger Syndrome will retain their acquired language skills.

Symptoms: obsessive interest in a single object or topic, repetitive routines and rituals, social and emotional inappropriate behavior, inability to interact successfully with peers, non-verbal communication problems, uncoordinated motor movements, lack of “common sense”, reading problems, etc. 

Treatment: medication combined with therapy can be effective.

The outlook is good – people can function in society although they will find some difficulties. Children may require special education because of behavioral and social problems. Social support is very important, but this also applies to the other disorders from the autistic spectrum. 

Many parents believe that there is a causal relationship between vaccinations and autism, but there is no evidence for that in the scientific community. Some even avoid or delay vaccinations risking their child’s death or other disabilities.

Taking care of an autistic child

Autistic children are generally taken care of in special institution. In these institutions there is a multidisciplinary approach: special programs in which the children will be helped to recognize themselves and others as individuals, an adapted educational activity, psychomotor development and language acquisition programs, psychotherapy, etc. The parents can also receive psychological help, as coping with an autistic child can be difficult. Although medical science is improved every day, some autistic children cannot be helped much when severe autism develops. Also, social support is a key element in working with some of the difficulties related to social behavior and communication.  

Even small tasks can be difficult to learn for those with autism and even if they make great improvements, they might be considered socially awkward and have problems later in life because of that. Parents can often become frustrated but they should remember that patience and love can make wonders for their child.