Autism is a neurodevelopmental condition which is usually diagnosed in the first 3 years of life. Generally parents become concerned when their child has delays in speech development, limited social relatedness, and restricted interests and activities. The child may avoid direct eye contact and exhibit odd behaviors such as focusing on parts of objects (e.g. the spinning wheel of a toy car). There may be unusual motor movements such as hand flapping, self stimulation or walking on toes.
Although the cause of autism is unknown, it is generally believed that etiology may be due to multiple factors. Many genetic, environmental, metabolic and neurological conditions that affect the normal functioning of the brain are being researched. The diagnosis of autism requires disturbances in each of three domains: (1) social relatedness, (2) communication/play, and (3) restricted interests and activities.
- Social relatedness includes marked impairment in non-verbal communication, peer relationships and social-emotional reciprocity.
- Communication/play includes either a delay or total lack of spoken language and lack of developmentally-appropriate make-believe or social play.
- Restricted interests and activities includes encompassing preoccupations, adherence to non-functional routines or rituals, stereotypies and motor mannerisms.
Treatment planning is complex since each child has different strengths and deficits. Evidence that earlier detection and provision of services improves long term prognosis makes early diagnosis particularly important to improve the child’s adaptive skills and future functioning. The diverse expression of these disorders both across and within individuals presents particular challenges for clinical diagnosis and treatment.
Parents and relatives should be concerned about their infant or toddler if they notice any of the following developmental delays or behavioral problems and discuss concerns with their child’s pediatrician to obtain appropriate referrals for evaluation:
- lack of or delay in development of spoken language .
- repetitive use of language and/or motor mannerisms (e.g., hand-flapping, twirling objects).
- little or no eye contact.
- lack of interest in peer relationships.
- lack of spontaneous or make-believe play.
- persistent fixation on parts of objects.
Children diagnosed with autism tend to process and respond to information in the environment in unique ways. In some cases, parents are frightened because they exhibit aggressive and/or self-injurious behaviors which are difficult to manage.
- Insistence on sameness in routines (O)
- Difficulty in expressing needs verbally, using gestures or pointing instead of words (C)
- Repeating words or phrases in place of normal, responsive language (C)
- Laughing (and/or crying) for no apparent reason; showing distress for reasons not apparent to others (S)
- Prefers to be alone; aloof manner evident to strangers and family members (S)
- Tantrums and low frustration tolerance (S)
- Difficulty in initiating social contact with others (S)
- Uncomfortable with physical contact even when given with affection such as a hug (S)
- Little or no eye contact even when spoken to directly (S)
- Unresponsive to normal teaching methods (S)
- Plays with toys as objects (example bangs a toy car as a block rather than as a moving vehicle) (S)
- Focus on spinning objects such as a fan or the propeller of a toy helicopter (O)
- Obsessive attachment to particular objects (O)
- Apparent over-sensitivity or under-sensitivity to pain (S)
- No real fears of danger despite obvious risks of harm. (S)
- Noticeable physical over-activity or extreme under-activity (S)
- Impaired fine motor and gross motor skills (S)
- Non-responsive to verbal instructions; often appears as if child is deaf although hearing tests in normal range (C)
Legend: Communication (C), Obsessive-Compulsive Behavior (O), Social (S)
Unlike children with autism, individuals with Asperger’s disorder do not present with delays in language acquisition or with marked unusual behaviors and environmental responsiveness during the first years of life. Consequently parents often have no concerns about their child’s early development. A child with Asperger's may be diagnosed later than 3 years old because they are achieving their developmental milestones at a normal rate and are only referred for evaluation because parents observe that they are behaving differently from same aged peers. They may appear socially awkward, lack awareness of conventional social rules, or show limited empathy to others. Social interaction is affected because of diminished eye contact, disengagement in conversations, and inability to pick up social cues or understand the meaning of gestures
Speech patterns may be unusual and lack inflection or may be formal, but excessively loud or high pitched. Children with Asperger's may not understand the subtleties of language, such as irony and humor. Frequently, they may not recognize the give-and-take nature of a conversation and this translates into difficulty initiating and/or maintaining conversations. Their communication is sometimes described as “one way” so they appear to be “talking at” others instead of to them.
For example, a child diagnosed with Asperger’s disorder had social problems due to his restricted and circumscribed interests. In his conversations with peers, he delivered monologues on his favorite subject of planets in a slow methodical way. He was so involved in talking about the planets that he did not notice the frustration of his peers. Attempts to interject comments to initiate conversation were missed and the child continued to “lecture”. Consequently the other children eventually walked away feeling unfulfilled by the lack of connection and bored by the persistence of the same topic.
Another distinction between Asperger's syndrome and autism concerns cognitive ability. While some individuals with autism experience intellectual disability, by definition a person with Asperger's cannot possess a "clinically significant" cognitive delay, and most possess average intelligence. The outcome in Asperger’s disorder generally appears to be better than that for autism, although this may, in part, relate to better cognitive and/or verbal abilities.
There are no specific treatments to “cure” autism. Each child with an autism spectrum disorder has a unique constellation of developmental delays, speech deficits, social and cognitive impairments. Therefore, comprehensive treatment plans need to be developed to target each child's unique profile of strengths and functional impairments.
There are no medication treatments that treat the core symptoms of autism. However, often children with autism exhibit disturbing repetitive, stereotypical or self injurious behaviors that can be distressing to both the child and the parent. In cases when a child may be hitting himself repetitively, has mood instability or is aggressive to other children or family members, medication intervention may be warranted. The FDA has approved use of the medication risperidone to target aberrant behaviors of autism such as severe mood instability and aggression. There are other medications that are currently being studied to help reduce problem behaviors in autism but there are no other FDA approved treatments. Pharmacological interventions may increase the ability of persons with ASD to profit from educational and other interventions, and to remain in less restrictive environments through the management of severe and challenging accompanying behaviors. Frequent targets for medication include features such as aggression, self-injurious behavior, hyperactivity, inattention, anxiety, compulsive-like behaviors, other repetitive or stereotypic behaviors, and sleep disturbances. Sometimes SSRIs are used to address symptoms of mood or anxiety in children and adolescents with autism.
There are many reasons that a child diagnosed with autism spectrum disorders is not able to learn in a regular classroom setting. These include but are not limited to the following reasons:
- coexisting learning disabilities.
- coexisting intellectual disability.
- speech and communication delays.
- aggression to self or others.
- affective Instability.
- require individual supervision to participate in the classroom.
- social reciprocity problems.
Therefore special efforts need to be made by parents and caregivers to explore options so that the child’s abilities are maximized. Availability of resources differs by community so it is important to contact a child and adolescent psychiatrist or pediatrician to discuss the options available in your community.
Autism is a diagnosis classified under the broad term of pervasive developmental disorders. It is the most severe pervasive developmental disorder in which there is language and social impairments and pattern of restrictive and stereotyped behaviors, interests and activities. For a diagnosis of autism (autistic disorder), the following criteria must be met:
- a total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3):
- qualitative impairment in social interaction, as manifested by at least two of the following:
- marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
- failure to develop peer relationships appropriate to developmental level
- a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest)
- lack of social or emotional reciprocity
- qualitative impairments in communication as manifested by at least one of the following:
- delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime)
- in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others
- stereotyped and repetitive use of language or idiosyncratic language
- lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level
- restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
- encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus
- apparently inflexible adherence to specific, nonfunctional routines or rituals
- stereotyped and repetitive motor manners (e.g., hand or finger flapping or twisting, or complex whole-body movements)
- persistent preoccupation with parts of objects
- Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play.
- The disturbance is not better accounted for by Rett’s disorder or childhood disintegrative disorder.
The diagnosis of pervasive developmental disorder, not otherwise specified (PDD, NOS) is a diagnosis characterized by severe and persistent impairment in responding appropriately in social interaction that is associated with either 1) impairment in verbal or nonverbal communication skills, OR 2) stereotyped behavior, restricted interests and activities. This diagnosis is made when the symptoms or characteristics do not meet full criteria for a specific pervasive developmental disorder, schizotypal personality disorder, avoidant personality disorder or other psychiatric disorder.
Although, DSM-IV-TR does not offer specific diagnostic criteria for PDDNOS, there are at least five subgroups of individuals within PDDNOS:
- atypical autism: young children who have not yet developed full –blown autistic disorder; individuals who “almost but not quite” meet the full criteria for autistic disorder (i.e., broader autism phenotype or lesser variant autism; patients who have a late onset (i.e., after age 3 years) of autistic disorder.
- residual autism: individuals who had a history of having autistic disorder but presently do not meet the criteria for autistic disorder (i.e., still having some autistic features subsequent to effective interventions and/or natural development)
- atypical Asperger's disorder: young children who have not yet developed full-blown Asperger's disorder and individuals who ‘almost but not quite” meet the full criteria for Asperger's disorder.
- Mixed features of atypical autism and atypical Asperger's disorder
- Comorbid autism: children with a medical or neurological disorder (e.g., tuberous sclerosis) associated with some "autistic features"
The differential diagnosis between PDDNOS and other mental disorders can be a very challenging task for even experienced practitioners because PDDNOS has a vague definition, diverse subtypes, and unclear diagnostic boundaries. It is unclear whether this difference in diagnosis has clinical relevance in terms of prognosis or treatment. In summary, the difference between Autism and PDDNOS is mainly determined by the quantitative measure of the diagnostic criteria. The treatment of patients with PDDNOS, including atypical autism is similar to the interventions for children with autism. However, it is important to note that special education systems in most U.S. states do not have an educational category specifically for students with PDDNOS. Therefore many students with this diagnosis are placed in programs for students with other disorders such as intellectual disability, emotional disturbance, or behavior disorder, consequently not receiving programming that meets their unique educational needs. It is essential for the parents and the child and adolescent psychiatrists to work closely with the schools to ensure that the child diagnosed with PDDNOs receives necessary educational services.
Tsai L: Other Pervasive Developmental Disorders. Textbook of Child and Adolescent Psychiatry. The American Psychiatric Publishing Chapter 21:338-341, 2004