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Autism spectrum disorders affect 1 in 100 children and the prevalence is 3 times higher in females. One-third of all children with autism have seizures.
The term “autism” originates from the Greek word “autos,” implying the preoccupation with oneself. Autism spectrum disorders (ASDs) are recognized as a heterogeneous group of neurodevelopmental disorders characterized by certain behavioral features. The Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) defines autism as a syndrome manifested by impairments in social relatedness and communication and by repetitive routines and restricted interests. The term “pervasive developmental disorders” (PDDs), according to DSM-IV, refers to 5 conditions: (1) autistic disorder, (2) Asperger disorder, (3) Rett disorder, (4) childhood disintegrative disorder, and (5) PDD not otherwise specified. For the purpose of this discussion, ASD is used synonymously with PDD.
The prevalence of ASDs is 1 in 100 children, and the prevalence in males is 3 times higher than in females.1 However, no predilection has been reported for children from specific ethnic or socioeconomic groups. As the term “spectrum disorder” implies, the condition has varying manifestations and severity. In your practice, you are likely to treat children with ASDs. The following 5 points are important to keep in mind when faced with the challenge of treating a child with ASD.
1. Evaluation and testing
The American Academy of Pediatrics recommends screening with standardized tests at 9, 18, 24, and 30 months of age. Examples of such tests include the Checklist for Autism in Toddlers (CHAT), Social Communication Questionnaire (SCQ), and Social Responsiveness Scale (SRS).2,3 For formal tests of cognitive level (Wechsler Intelligence Scale for Children), assessment of adaptive functioning (Vineland Adaptive Behavior Scale), and evaluation of autism-related behaviors (Childhood Autism Rating Scale or Gilliam Autism Rating Scale), referral to a neuropsychologist is recommended.4 These tests are important for determining the child’s intellectual abilities and comorbid conditions. Test results will help guide school placement to maximize the child’s potential and will offer caregivers a realistic prognosis. Nonetheless, abilities can change over time and interim analysis may be helpful to guide the family.
Children with autism sometimes demonstrate disruptive and self-aggressive behaviors in addition to anxiety, hyperactivity, and irritability. In fact, 30% of children with autism exhibit moderate to severe irritability.5 These behaviors not only may be distressing to parents and teachers but also may be disruptive to family activities and are often the reason parents seek medical intervention. Behavioral and pharmacologic treatments are helpful. Risperidone has FDA approval for targeted therapy for severe tantrums and aggression in children, and several rigorous studies support its use.6 Olanzapine, quetiapine, and aripiprazole are antipsychotics that have shown beneficial effects in small studies. Hyperactivity may be managed with stimulants or ?-agonists (eg, clonidine). In children with a comorbid condition such as epilepsy, an anticonvulsant with mood-stabilizing properties (eg, valproic acid) may also be used. Although serotonergic dysregulation is well documented in autism, large randomized controlled studies do not provide support for use of selective serotonin reuptake inhibitors in children with ASDs.
One-third of all children with autism have seizures. The age at onset of epilepsy usually shows a bimodal distribution, with the first peak before the age of 5 years and second after puberty. The presence of cognitive impairment increases the risk for seizures.7 Seizures of all types may be observed, including complex partial, generalized tonic-clonic, and myoclonic. The “staring spells” and repetitive body movements that many parents report are usually not seizure-related phenomena and are more likely to be stereotypic behavior. The workup may include brain MRI and electroencephalography, as for any child with new-onset seizures. However, one caveat that must be kept in mind is that the findings on an electroencephalogram (EEG) can be abnormal in a child with ASD without evidence of clinical seizures.8 Hence, abnormal EEG findings in a child with no clear-cut clinical events suggestive of seizures must be handled with circumspection. A prolonged EEG aimed at recording clinical events may help determine whether the events being reported by the family are truly epileptic. Treatment of seizures includes standard antiepileptic medications, such as valproic acid, lamotrigine, and levetiracetam. Most important, counseling about safety issues related to activities such as swimming, bathing, and climbing must be reviewed at every visit because morbidity and mortality related to such activities are higher for children with epilepsy.
More than half of all children with ASDs tend to have sleep problems, with insomnia being the most common.9 Parents may note difficulties with sleep initiation and maintenance as well as restless sleep and awakening at very early hours. The behavioral deficits associated with ASDs, such as inability to calm oneself, difficulty with transitioning, and excessive sensitivity to light and sound, compounded by communication deficits may make it difficult for children with ASDs to develop established sleep regimens that are compatible with those of the rest of the family. Behavior interventions such as consistent bedtimes and calming activities toward the end of the day are helpful. Some children may benefit from use of melatonin, which is relatively safe.10 Other treatment options include low doses of clonidine, anxiolytics, and mood stabilizers.
5. Genetic evaluation
Parents often want to know if there is a reason why their child has autism. Genetic testing is widely available, and many parents want their child to be tested. Most children with ASDs do not have specific features in the history or physical examination to suggest a genetic cause. The most appropriate genetic test to order is chromosomal microarray analysis, which has a higher diagnostic yield (more than 15%) than karyotype analysis.11 In patients with conditions in which autistic symptomatology is prominent-such as in Smith-Lemli-Opitz, fragile X, Cornelia de Lange, Williams, and Rett syndromes-a clear-cut genetic diagnosis can be established. Dysmorphic facial appearance, limb anomalies, microcephaly, macrocephaly, and cardiac defects may point to an underlying diagnosis. In patients with well-established genetic conditions, such as tuberous sclerosis, neurofibromatosis, Down syndrome, and phenylketonuria, prominent pervasive features may indicate that ASD exists as a comorbidity.
As advocates for child health, pediatricians are often called on to offer their opinions regarding alternative treatment approaches, such as the gluten-free, casein-free (GFCF) diet and use of probiotics, oral immune modulators, omega-3 fatty acids, and digestive enzymes. Very little scientific evidence exists regarding the use of probiotics and enzymes. In two pilot studies,12,13 the use of fatty acids produced negative results. A randomized placebo-controlled study by Elder and colleagues14 concluded that the GFCF diet is essentially unhelpful. High-quality studies are not yet available to strongly support the use of these remedies, although studies of parental perception have indicated high degrees of satisfaction with the GFCF diet, with patients showing improvement in social interaction and ASD behaviors.15
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14. Elder JH, Shankar M, Shuster J, et al. The gluten-free, casein-free diet in autism: results of a preliminary double blind trial. J Autism Dev Disord. 2006;36:413-420.
15. Pennesi CM, Klein LC. Effectiveness of the gluten-free, casein-free diet for children diagnosed with autism spectrum disorder: based on parental report. Nutr Neurosci. 2012;15:85-91.