Autism manifests in early childhood and is characterized by qualitative abnormalities in social interactions, markedly aberrant communication skills, and restricted repetitive and stereotyped behaviors. Over the past two decades, reported rates of autism spectrum disorder have been rising in many countries, without any clear explanation as to the cause. Do you know how to assess suspected autism and the best treatment options? Test your knowledge with this quick quiz.
Which of the following obstetric conditions is associated with an increased risk of having a child with autism?
Vulvodynia
Ovarian cysts
Severe early gestational maternal hypothyroxinemia
Hyperemesis gravidarum
Severe early gestational maternal hypothyroxinemia is associated with an increased risk of having a child with autism, according to a study that involved 5100 women and 4039 of their children. Severe maternal hypothyroxinemia early in pregnancy increased the likelihood of having an autistic child by almost fourfold. By age 6 years, children of mothers with severe hypothyroxinemia had higher autism symptom scores on the Pervasive Developmental Problems subscale of the Child Behavior Checklist and the Social Responsiveness Scale.
Which of the following is the common age group in which autism symptoms begin?
Age 12-18 months
Age 15-30 months
Age 2-3 years
Age 3-5 years
Between 13% and 48% of people with autism have apparently normal development until age 15-30 months, when they lose verbal and nonverbal communication skills. These individuals may have an innate vulnerability to develop autism. Although regression may be precipitated by an environmental event (eg, immune or toxic exposures), more likely it is coincidental with other environmental events. Some parents may be aware of subtle differences much earlier in life. Instruments to measure abnormalities predictive of autism are likely to be developed.
For more on the presentation of autism, read here.
Which of the following is NOT a commonly observed characteristic of children with autism?
Self-injurious behavior
Aberrant palmar creases
Weakened immune system
Awkward or impaired body movement
Although gastrointestinal disorders, particularly constipation and chronic diarrhea, are more common in children with autism spectrum disorder, an overall weakened immune system is not an acknowledged feature. Unusual body movement, aberrant palmar creases and other dermatoglyphic anomalies, and self-injurious behavior are sometimes noted.
For more on the physical examination of autism, read here.
Which of the following studies is NOT indicated in suspected cases of autism?
Neuroimaging
Electroencephalography
Psychophysiologic assessment
Polysomnography
No clinical evidence currently supports the role of routine clinical neuroimaging in the diagnostic evaluation of autism, even in the presence of megalencephaly. Electroencephalography is useful for ruling out seizure disorder (present in one third of children with autism), acquired aphasia with convulsive disorder (Landau-Kleffner syndrome), biotin-responsive infantile encephalopathy, and related conditions. Psychophysiologic assessment is indicated in children with autism. Children are not likely to show the response habituation in respiratory period, electrodermal activity, and vasoconstrictive peripheral pulse amplitude response to repeatedly presented stimuli seen in typical children. Children with autism may also demonstrate auditory overselectivity. Polysomnography may facilitate the diagnosis of treatable comorbid disorders. Most children with autism have sleep disturbances, including early morning awakening, frequent arousals, and fragmented sleep.
Nevertheless, careful assessment by an experienced clinician is the crucial procedure to establish a diagnosis of autism. Administration of the Autism Diagnostic Interview-Revised (ADI-R) to the mother and the Autism Diagnostic Observation Schedule (ADOS) to the patient and possibly the mother are the best available tools to establish the diagnosis of autism.
Which of the following medications is commonly used to treat autism?
Haloperidol
Clozapine
Fluoxetine
Trazodone
Selective serotonin reuptake inhibitors (SSRIs) are widely prescribed for comorbid disorders in children with autism and related conditions. Beneficial effects on children and adolescents with autism and other pervasive developmental disorders have been reported with fluoxetine, escitalopram, and citalopram. Children with autistic disorder appear sensitive to medication and may experience serious adverse effects that outweigh any beneficial effects. For example, children may develop catatonia when treated with haloperidol and other traditional neuroleptics. Additionally, priapism has been associated with trazodone.
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Autism Treatment & Management
Approach Considerations
Individual intensive interventions, including behavioral, educational, and psychological components, are the most effective treatments of autistic disorder. Beginning the treatment early in infancy increases the likelihood of a favorable outcome. Thus, regular screening of infants and toddlers for symptoms and signs of autistic disorder is crucial because it allows for early identification of these patients.
Individuals with autism spectrum disorder and unspecified pervasive developmental disorder typically benefit from behaviorally oriented therapeutic programs developed specifically for this population. Autistic children should be placed in these specialized programs as soon as the diagnosis is entertained.
Parents, teachers, pediatricians, and other health care providers are advised to seek the assistance of people who are familiar with early intervention programs for children with autistic disorder. The Autism Society can help parents to obtain appropriate referrals for optimal interventions.
Parents understandably become exhausted by the relentless performance of challenging behaviors by their child with autism. A specially trained educator or behavioral psychologist can help to teach them effective ways to modify these challenging behaviors. Parents also frequently benefit from temporary respite from the child.
The possible benefits from pharmacotherapy must be balanced against the likely adverse effects on a case-by-case basis. In particular, venlafaxine may increase high-intensity aggression in some adolescents with autism.[8]
Limited, largely anecdotal evidence suggests that dietary measures may be helpful in some children with autism. Avoidance of certain foods, notably those containing gluten or casein, and supplementation with specific vitamins and minerals have reportedly proved helpful in select cases.
The National Autism Center has initiated the National Standards Project, which has the goal of establishing a set of evidence-based standards for educational and behavioral interventions for children with autism spectrum disorders. The project has identified established, emerging, and unestablished treatments.
Special Education
Special education is central to the treatment of autistic disorder. Although parents may choose to use various experimental treatments, including medication, they should concurrently use intensive individual special education by an educator familiar with instructing children who have autistic disorder or a related condition. Intensive behavioral interventions, instituted as early as possible, are indicated for every child in whom autistic disorder is suspected[118, 119] .
The Education for All Handicapped Children Act of 1975 requires free and appropriate public education for all children, regardless of the extent and severity of their handicaps. Amendments to the Education of the Handicapped Act of 1986 extended the requirement for free and appropriate education to children aged 3-5 years.
Pediatricians and parents cannot assume, however, that their community’s school will provide satisfactory education for a child with autistic disorder or a related condition. The Individuals with Disabilities Education Act authorized states to determine how to provide educational services to children younger than 3 years. Pediatricians and parents need to determine the best way to proceed with local agencies.
Legal assistance may be necessary to influence a board of education to fund appropriate education for a child with autistic disorder or a related condition. The Autism Society maintains a Web site and offers a toll-free hotline (1-800-3-AUTISM/1-800-328-8476). This resource provides information and referral services to the public.
Speech, Behavioral, Occupational, and Physical Therapies
Therapies that are reported to help some individuals with autism include the following:
Assisted communication - Using keyboards, letter boards, word boards, and other devices (eg, the Picture Exchange Communication System [120] ), with the assistance of a therapist
Auditory integration training - A procedure in which the individual listens to specially prepared sounds through headphones
Sensory integration therapy - A treatment for motor and sensory motor problems typically administered by occupational therapists
Exercise and physical therapy - Exercise is often therapeutic for individuals with autistic disorder; a regular program of activity prescribed by a physical therapist may be helpful
In addition, social skills training helps some children with autism spectrum disorder, including those with comorbid anxiety disorders.[7] Children with autism spectrum disorder and comorbid attention deficit hyperactivity disorder may not benefit from social skills training.[7]
In a 2-year randomized, controlled trial, children who received the Early Start Denver Model (ESDM), a comprehensive developmental behavioral intervention for improving outcomes of toddlers diagnosed with autism spectrum disorder, showed significant improvements in IQ, adaptive behavior, and autism diagnosis compared with children who received intervention commonly available in the community.[121] A follow-up electroencephalographic study showed normalized patterns of brain activity in the ESDM group.[122]
In contrast, a 12-week study of parent-delivered ESDM intervention found no effect on child outcomes compared with usual community treatment. However, starting intervention at an earlier age and providing a greater number of intervention hours both related to the degree of improvement in children's behavior.[123]
Diet
When compared with their typically developing (TD) peers, children with ASD are significantly more likely to experience GI problems and food allergies. According to one study, children with ASD were 6 to 8 times more likely to report frequent gas/bloating, constipation, diarrhea, and sensitivity to foods than TD children. Researchers also discovered a link between GI symptoms and maladaptive behavior in children with ASD. When these children had frequent GI symptoms, they showed worse irritability, social withdrawal, stereotypy, and hyperactivity scores compared with those without frequent symptoms.[124, 125]
Individuals with autistic disorder or a related condition need 3 well-balanced meals daily. Dietary consultation may be useful to evaluate the benefits of special diets, including those lacking gluten and casein. Vitamin B-6 and magnesium are among the vitamins and minerals hypothesized to help some patients.[126]
In a randomized, double-blind, placebo-controlled trial, 3 months of treatment with a vitamin/mineral supplement produced statistically significant improvement in the nutritional and metabolic status of children with autism. In addition, the supplement group had significantly greater improvements than did the placebo group in its Parental Global Impressions-Revised (PGI-R) Average Change scores.[127]
Pharmacologic Treatment
Although 70% of children with autism spectrum disorder receive medications, only limited evidence exists that the beneficial effects outweigh the adverse effects.[128] No pharmacologic agent is effective in the treatment of the core behavioral manifestations of autistic disorder, but drugs may be effective in treating associated behavioral problems and comorbid disorders.[129, 130]
The second-generation antipsychotic agents risperidone and aripiprazole provide beneficial effects on challenging and repetitive behaviors in children with autism spectrum disorder, although these patients may experience significant adverse effects.[131] Risperidone and aripiprazole have been approved by the US Food and Drug Administration (FDA) for irritability associated with autistic disorder. The second-generation antipsychotic agent ziprasidone may help to control aggression, irritability, and agitation.[132]
Serotonergic drugs are reportedly beneficial for improving behavior in autism. Hyperactivity often improves with methylphenidate therapy.
Additionally, treatments may be indicated for an underlying condition. For example, children with biotin-responsive infantile encephalopathy improve with the addition of biotin.
SSRIs
Selective serotonin reuptake inhibitors (SSRIs) are widely prescribed for children with autism and related conditions. Beneficial effects on children and adolescents with autism and other pervasive developmental disorders have been reported with fluoxetine,[133] escitalopram,[134] and citalopram[135, 136] .
On the other hand, a multicenter, randomized, controlled trial by King and colleagues in 149 children with autism spectrum disorders found no difference between citalopram and placebo among children rated as much improved or very much improved. Participants in the treatment arm received liquid citalopram daily for 12 weeks at a mean maximum daily dose of 16.5 mg (maximum 20 mg). Nearly all the citalopram recipients reported adverse effects (eg, impulsiveness, hyperactivity, diarrhea).[137]
Serotonin syndrome
Children with autistic disorder are at risk of developing a serotonin syndrome when treated with serotonergic agents. Therefore, children who are treated with serotonergic agents should be evaluated at baseline before beginning treatment and then regularly evaluated for symptoms of a serotonin syndrome using the serotonin syndrome checklist. See the image below for a printable version.
Serotonin syndrome checklist.
Adverse effects and treatment efficacy
Children with autistic disorder appear sensitive to medication and may experience serious adverse effects that outweigh any beneficial effects. For example, children may develop catatonia when treated with haloperidol and other traditional neuroleptics.[138, 139] Additionally, Kem et al noted priapism in an adolescent with autism who was treated with trazodone.[140]
Practice guidelines from the American Academy of Pediatrics stress the importance of having some quantifiable means of assessing the efficacy of medication used for the treatment of children with autism. Validated, treatment-sensitive rating scales that have been used in clinical practice to measure the effects of treatment on maladaptive behavior include the Clinical Global Impression Scale, the Aberrant Behavior Checklist, and the Nisonger Child Behavior Rating Form.[141]
Experimental Approaches
Various interventions, including chiropractic manipulations, are reported to help with autistic disorder. The results of individual case reports, however, cannot be generalized to the overall autistic population; scientific research is needed to investigate whether treatments truly are generally helpful.
Secretin therapy
Several anecdotal reports suggested that secretin, a gastrointestinal hormone that may function as a neurotransmitter, was an effective intervention for the symptoms of autism. This led to several scientific studies of secretin for children with autism spectrum disorders.[142, 143, 144] However, 2 reviews of these trials failed to demonstrate that secretin had a beneficial effect on these children.[145, 146]
Hyperbaric oxygen therapy
Beneficial effects from hyperbaric oxygen therapy have been reported in 6 patients with autism. The risks of this procedure must be weighed against the benefits for individual patients. Controlled clinical trials and other studies are needed to confirm the potential value of this intervention.
Intranasal oxytocin
Research suggests that administration of a single intranasal dose of the hormone oxytocin increases activity in brain regions associated with reward, social perception, and emotional awareness and temporarily improves social information processing in children with autism spectrum disorder (ASD).[147, 148]
In the study of 17 high-functioning children and adolescents with ASD, brain centers associated with reward and emotion recognition responded more during social tasks when children received oxytocin instead of a placebo.
Although behavioral studies in children and adults suggest that a single dose of intranasal oxytocin improves social interaction and comprehension of affective speech, results from clinical trials examining the effect of daily administration of the drug have been mixed.
Specialist Resources
Children with autism and related conditions typically benefit from intensive, thorough evaluation performed by experienced professionals. Intensive diagnostic evaluation and treatment are accomplished quickly and effectively by well-trained clinicians at well-staffed centers. Valuable resources are listed below.
Division of Developmental and Behavioral Pediatrics
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute
University of California Davis Medical Center
4860 Y Street, Room 3020
Sacramento, CA 95817
Phone (toll-free): 888-883-0961
Phone: 916-734-5153
Strong Center for Developmental Disabilities
Department of Pediatrics
Children's Hospital at Strong
University of Rochester Medical Center
601 Elmwood Ave
Rochester, NY 14642
Phone: 716-275-2100
Consultations
Neuropsychological consultation can be helpful to assess intelligence. Deficits in simple and complex problem-solving tasks (verbal and nonverbal), are likely to be demonstrated on the following tests:
Wisconsin Card Sorting Test
Trail Making Test
Stanford-Binet Intelligence Test
Other consultations include the following:
Ophthalmologic consultation - May be indicated to rule out a treatable visual deficit; special lenses are reported to help some individuals with autistic disorder
Neurologic consultation with a movement disorder specialist - Indicated to evaluate tics and other movement disorders when present
Infectious disease consultation - May be helpful to rule out bacterial or fungal infections
Metabolic consultation - May help to identify any deficiencies
Immunologic consultation - May be useful to rule out immune abnormalities; the possible benefits of experimental treatments, such as intravenous (IV) immunoglobulin therapy, must be weighed against the risks of experimental treatments
Otolaryngologic consultation - May be indicated to rule out deficits in the auditory apparatus; additionally, audiography is indicated to rule out hearing deficits
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The Principle of Least Interest: He who cares least about a relationship, controls it.