Autism includes a wide spectrum of neuro developmental disorders, characterized by impairment in several areas of development. Recently these disorders are being referred to as autistic spectrum disorders (ASD) to include a broader behavioral phenotype. Sometimes the terms autism and ASD are used interchangeably.
The core features of autistic spectrum disorders are:
· Qualitative impairment in reciprocal social interactions
· Qualitative impairment in communication (verbal and non-verbal)
· Restrictiveand stereotypical patterns of behaviors, interests, or activities
In addition, children with autism may have unusual responses to sensory experiences or perceptions.
All of the following symptoms/deficits may/may not be present in a child. Since there is a wide variation in presentation of Autistic disorder, variable combination of symptoms may be present in a given child.
1) Deficits in reciprocal social interaction
· Delay in the appearance of social smile
· Impairment in the non-verbal behaviors used for social interaction (eye-to-eye contact,facial expressions, body postures and gestures)
· Child may appear to be “in his/her own world”
· There may be lack of spontaneous sharing of enjoyment and interests with other people
· Social interaction is rarely initiated spontaneously
· Contrary to popular belief, autistic children can show definite signs of attachment with familiar people or even clinginess to a specific care giver
· On the other extreme, these children may display excessive familiarity with strangers due to the absence of social inhibitions and stranger anxiety
2) Deficits in verbal and non-verbal communication
· Approximately 50% never develop speech. In the remaining 50%, language acquisition is delayed and deviant
· This may manifest with impairment in the ability to initiate or sustain a conversation, or stereotyped, repetitive use of language
· Children may exhibit repetition of words or phrases regardless of meaning or relevance (echolalia) and pronominal reversal (substituting ‘I’ for “you’ or vice-versa)
· The child may not be able to understand gestures or use them during communication
· There is an absence of effort to indicate an item of interest to another person
3) Stereotypic behavior
· Restrictive and repetitive behaviors present as stereotypic movements (body rocking, finger twirling, hand flapping, spinning and tip-toe walking)
· A preoccupation with certain ideas or objects (i.e. a fascination with certain numbers, letters, schedules, animate or inanimate objects)
· An apparently inflexible adherence to specific, nonfunctional routines or rituals
4) Sensory deviance
· These may be visual (seeing things from a particular angle), auditory (appearing deaf at times, clapping hand over their ears), olfactory (sniffing objects) or perceptual (refusing to eat food with certain textures or tastes, mouthing of objects, compulsive touching of certain objects or textures, diminished response to pain)
· Increased sensitivity to touch, including but not limited to the feel of running water, adversity to bathing
· This may be a typical or deviant, and if present, is mechanical and repetitive
· Imaginative play is markedly impaired or absent
· The child may play with objects which are not usually used for play by children of the same developmental level. E.g. A six-year old child collecting and playing with shoes, papers or wrappers
· Lining things up
6) Abnormalities of mood or affect
· Mood may be inappropriate to the situation or circumstances.
· This may be in the form of uncontrollable crying or laughing in a situation where it is not warranted.
These children may be oblivious to hazards or may have excessive fear of harmless objects.
Early pointers to autism
Early red flag signs in communication
Early red flag signs in social functioning
Clinical features of Autistic disorder
The manifestations vary depending on the developmental level, age of the child, and degree of impairment.
Note: This may not be true for children with Asperger disorder who can often pass as “typical” until a much later age (10-12 years).
Co-morbidities of autistic spectrum disorders
· Psychiatric disorders: Attention Deficit Hyperactivity Disorder, anxiety disorders, disruptive behavior disorders, mood disorders, tics and Tourette disorder.
· Mental retardation
· Feeding disturbances and gastro-intestinal problems
· Sleep disturbances
· Hearing impairment
Natural course ofAutistic disorder
· It is very important to remember that the clinical spectrum changes with age and attainment of developmental maturity.
· The specific characteristics change as the child grows older, but the deficits continue into and through adult life with broadly similar patterns.
· During infancy, most children have a history of delayed or unusual development. Some children (33%) may give a history of normal development with regression becoming apparent between 1 and 3 ½ years. Often delays and deviations in language become apparent during the 2nd or 3rd year and are a common cause of seeking professional help. Up to 25% of children with autism had a history of normal development to approximately 18-24 months of age followed by a loss of social and communication skills
· As the child develops, the child may become more willing to be passively engaged in social interaction, but their behavior is still deviant with unawareness of other people’s boundaries or inappropriate intrusiveness
· Hyperactivity improves and ritualistic behaviors start decreasing during adolescence
· Depression may develop in some high functioning autistic individuals who have limited social and language skills when they struggle with the normal desire to be apart of a group.
BROAD PRINCIPLES OF MANAGEMENT
The goals of management comprise of:
· Advancement of normal development (acquisition of cognitive, communication and social skills)
· Promotion of learning and problem solving in structured semi-structured and unstructured settings
· Reduction of maladaptive behavior that impede learning
· Treatment of all co-morbid conditions
· Assistance of families to cope with autism
Management of primary problems
The earlier and more frequent the intervention, the better the prognosis. Universally accepted goals are improvement of the overall functioning status of the child by development of communication, social, adaptive, behavioral and academic skills. Therapy with young children focuses on speech and language, special education, parent education, training and support and pharmacotherapy for certain target symptoms. Older children and adolescents with greater intelligence but poor social skills and psychiatric symptoms may require psychotherapy, behavioral or cognitive therapy and pharmacotherapy.
Behavioral & Psychological Treatment:
2- 3 years children
· Target deficits in learning, language, imitation, attention, motivation, compliance and initiative of interaction
· Behavioral methods/ communication/ occupational/ physical therapy/ social play intervention
· Physical activity to develop motor coordination (games/ puzzle/ paint)
· Encourage interaction and use of language at snack time
3- 9 years children
· Provide a structure to enable a child to acquire social skills and functional communication
· Involve parents to use the skills and behavior learned at school when at home
· Encourage to grow his/ her areas of strength
· Skills as learning how to behave in social gatherings and in making friends
Address practical matters in activities of daily living
· There is no pharmacological cure or substitute for appropriate educational, behavioral, psychotherapeutic, vocational, and recreational programs
· Medication is used only as an adjunct to these core interventions
· The goals are to minimize core symptoms, prevent harmful behavior (aggression, self-injury) and maximize the benefits of non-medical intervention.
· A decrease in these behaviors may facilitate communication, learning, socialization and integration into community settings.
Management ofassociated problems/ co-morbidities
· Mentalretardation - Acquisition of skills employed in the activities of daily living
· Eating Disorder - Cognitive Behavior therapy and routine activity
· Sleeping disorder - Use of appropriate medications and routine activity
Steps for prevention
Secondary and tertiary prevention can be done by
· Genetic counseling (especially genetic and metabolic conditions associated with Autistic disorder and Rett disorder)
· Increasing awareness among parents and community.
· Increasing index of suspicion among primary care providers to enable early diagnosis.
· Increasing awareness and sensitizing kindergarten, nursery and primary school teachers
· Appropriate management as early as possible.
· High index of suspicion and early identification
o By increasing awareness among parents and teachers (play schools and regular schools)
o Awareness among doctors- general pediatricians/ psychologists/ pediatric neurologists
· Creating a network of agencies who can diagnose and manage such children so that appropriate and timely referral canbe possible
Providing multidisciplinary assessment and advice to prevent development of secondary complications. The rehabilitation team should be staffed by a team of specialist professionals who work as a co-coordinated multidisciplinary team to enable people to transfer skills acquired during therapy sessions to their daily living activities. These include a developmental pediatrician/neurologist, a psychiatrist, ophthalmologists and optometrists, audiologists, psychologists, occupational and physical therapists, speech and language pathologist, behavioral expert and special educator.
· National Trust for Welfare of Persons with Autism, Cerebral Palsy, Mental Retardation and Multiple Disability Act, 1999 has provisions for legal guardianship of the four categories and creation of enabling environment for as much independent living as possible. The Ministry of Finance has included income tax exemption for parents/ guardians of children with autism according to Section 80DD andSection 80U of the Income Tax Act 1961.
· The NationalTrust also provides following assistance for persons with disabilities:
Economic rehabilitation of persons with disabilities comprise of both wage employment in organized sector and self-employment (3% reservation in employment in government establishments; wage employment in private sector; self-employment; special benefits for women and children with disabilities; provision of barrier-free environment).
· NHFDC schemes implemented through state channelising agencies (SCA) and nationalized banks: Loan upto Rs. 3.00 lakh can be availed for self-employment amongst persons with mental retardation, cerebral palsy and autism
Management of the family with an affected child
· Developing social support groups
· Counseling the family
Assessment of medical comorbid aspects
1. Assessment of vision and hearing: in all children
2. Assessment of mental Retardation: in all children
3. Electroencephalography: indicated in children with suspected seizures, unusual behavior, symptoms of regression, unusually poor sleep or regressive loss of previously acquired sleep.
4. Neuro-imaging: indicated in children with focal neurological signs, dysmorphic features or regression.
5. Assessment of sleep disorders: indicated when the sleep problems cause considerable stress and interfere with family functioning.
6. Assessment of feeding problems: if leading to significant malnutrition
7. Genetic referral and testing (DNA analysis, High-Resolution Chromosome Analysis): indicated in the presence of dysmorphic features or a positive family history of mental retardation of undetermined etiology. Genetic testing for Fragile X syndrome and Rett disorder is available.
8. Metabolic testing: indicated when there is additional history of episodic lethargy and cyclic vomiting, early seizures, dysmorphic features, mental retardation or regression.
9. Screening for lead levels: indicated for children with significant geophagia or pica.