STATEMENT OF THE PROBLEM

The pediatrician is faced with the challenging task of suspecting an ASD diagnosis as early as possible and implementing a timely treatment plan to achieve the best outcome for the child and family. Early diagnosis of ASD is challenging in the context of primary care visits, because there is no pathognomonic sign or laboratory test to detect it. Thus, the physician must make the diagnosis on the basis of the presence or absence of a constellation of symptoms. ASD is a phenomenologic rather than an etiologic disorder (eg, trisomy 21 in Down syndrome), making the diagnosis more challenging. Pediatricians must rely on parent report, clinical judgment, and the ability to recognize criteria-based behaviors that define ASD.

Pediatricians are now seeing more children with ASD in their offices; thus, they need to increase their fund of knowledge and comfort level in caring for these children. Families are calling on their pediatricians to guide them through the plethora of behavioral, educational, psychopharmacologic, and alternative treatment options available to them. Early diagnosis is imperative to ensure prompt referral to an appropriate early intervention program.

Research has demonstrated that the recurrence rate for isolated ASD in subsequent siblings ranges from 3% to 7%. 33-35 This represents a recurrence risk approximately 50 times the baseline. Thus, early diagnosis is also important to ensure timely genetic counseling before the conception of subsequent siblings.

NEW INFORMATION

Substantial progress has been made during the past 20 years in the early diagnosis of ASD, detection of underlying etiologic neurologic and genetic conditions, 3,4 and development of behavioral, educational, 36 and psychopharmacologic 37 interventions. There also has been an increase in alternative therapies for children with ASD with which the pediatrician should be familiar. 38,39

Early diagnosis is dependent on listening carefully to parents' concerns about their child's development and behavior. Current research has revealed that parents are usually correct in their concerns about their child's development. 40-43 Any concerns should be valued and should lead to additional investigation by the primary care pediatrician, a child neurologist, a developmental pediatrician or other qualified specialist, or preferably, a team of specialists.

Aberrant social skill development is a hallmark for ASD. Early social skill deficits may include abnormal eye contact, aloofness, failure to orient to name, failure to use gestures to point or show, lack of interactive play, and lack of interest in peers, among others. In general, parents infrequently raise concerns about social skill deficits; therefore, when they do, the concerns are serious red flags and ASD should be considered. Combined language and social delays and regression in language or social milestones are even bigger red flags for ASD and should prompt additional evaluation immediately. More commonly, parents of children later diagnosed with ASD express subtle concerns about speech delays and unusual behavior problems. 3,44 Speech delay has many additional causes (including hearing loss and cognitive deficits) and is the most common developmental concern voiced by parents of children between 1 and 3 years old. 45,46

In contrast, lack of a developmental concern does not imply typical development. All children should be formally monitored for developmental progress at every well-child care visit. Developmental surveillance is an important function of the pediatrician in the context of the medical home 47,48 and should include social-emotional milestones in addition to the more traditional motor, cognitive, and language ones. Parents may complete a standardized developmental questionnaire or an objective screening tool may be used during the visit. 3,49 Any concerns should prompt the pediatrician to perform a more comprehensive standardized test. Additionally, because of the relatively high familial recurrence rates, a younger sibling of a child with known isolated ASD deserves a high level of surveillance whether or not parents have concerns. If the pediatrician is unfamiliar with or unable to perform developmental testing, the child for whom there is a concern and/or the sibling should promptly be referred to a specialist or, preferably, a team of specialists.