Diagnosis despite clinical ambiguity: physicians' perspectives on the rise in Autism Spectrum disorder incidence.

BACKGROUND: To provide insight on physicians' perspectives concerning recent changes in the incidence and diagnostic process of Autism Spectrum Disorder (ASD) compared to other mental and neurodevelopmental disorders. METHOD: A questionnaire was sent to 191 specialists in child neurology and child development, and 200 child psychiatrists in Israel. Information was collected on professional background, as well as on physicians' opinions concerning the accuracy and rate of ASD diagnosis compared to that of cerebral palsy (CP), mental illness, and Attention Deficit Hyperactivity Disorder (ADHD). For each closed-ended question, a global chi-square test for categorical variables was performed. RESULTS: 115 (60.2%) of specialists in child neurology and development, and 59 (29.5%) of child psychiatrists responded. Most physicians (67.2%) indicated that there was a moderate/significant increase in the incidence of ASD, which was higher than similar responses provided for CP (2.9%, p < 0.01) and mental illnesses (14.4%, p < 0.01), and similar to responses provided for ADHD (70.1%, p = 0.56). 52.8% of physicians believed that in more than 10% of clinical assessments, an ASD diagnosis was given despite an inconclusive evaluation (CP: 8.6%, p < 0.01; mental illnesses: 25.8%, p = 0.03; ADHD: 68.4%, p = 0.03). CONCLUSION: The clinicians perceive both ASD and ADHD as over-diagnosed disorders. The shared symptomology between ASD and other disorders, coupled with heightened awareness and public de-stigmatization of ASD and with the availability of ASD-specific services that are not accessible to children diagnosed with other conditions, might lead clinicians to over-diagnose ASD. It is advisable to adopt an approach in which eligibility for treatments is conditional on function, rather than solely on a diagnosis. The medical community should strive for accurate diagnoses and a continuous review of diagnostic criteria.

Can computerized cognitive tests assist in the clinical diagnosis of attention-deficit hyperactivity disorder?

A group of 34 children and adolescents suspected of having attention-deficit hyperactivity disorder were referred for a computerized evaluation that included sustained attention, working memory, planning, and set-shifting. Although only sustained attention had reasonable specificity, all tests had questionable contribution to the diagnostic evaluation.

Sleep-wake patterns in children with intrauterine growth retardation.

The purpose of this study was to characterize the sleep patterns of children with intrauterine growth retardation, known to be at risk for neurodevelopmental disorders, and seek a possible correlation with behavior, concentration, and attention problems. The sleep patterns of 26 children with intrauterine growth retardation aged 4 to 7 years were compared with those of 47 control children using activity monitors (actigraphs). In addition, data were collected from the parents regarding sleep habits, behavior, concentration, and attention. Children with intrauterine growth retardation aged 4 to 7 years were found to have a tendency toward poorer quality of sleep than their matched controls. This inclination was statistically significant only for one sleep measure, the true sleep time. A tendency toward increased fragmentation of sleep, prolonged waking, and decreased sleep efficiency, although not statistically significant in this study, was demonstrated. Our results showed that 58% of the children with intrauterine growth retardation, compared with 40% of the children in the control group, could be defined as "poor sleepers" (sleep efficiency lower than 90% or three or more waking episodes per night). This disturbed sleep profile is probably an integral part of the neurodevelopmental profile typical of these at-risk children. No significant correlations were found between sleep quality and behavior, concentration, and attention problems.

Myoclonic seizures as a main manifestation of Epstein-Barr virus infection.

A 15-year-old girl with clinical and serologic evidence of active Epstein-Barr virus infection presented with a new onset of myoclonic jerks, confirmed on electroencephalogram (EEG) by generalized polyspike-and-wave epileptiform activity. Family history for juvenile myoclonic epilepsy was negative, and brain magnetic resonance imaging was normal. The myoclonic jerks resolved spontaneously after 5 days, with gradual normalization of the EEG during the ensuing month and since then no resumption over the last 2 years. Previous reports have already linked Epstein-Barr virus infection to opsoclonus-myoclonus syndrome and hypsarrhythmia, but to the best of our knowledge, this is the first presentation of epileptic myoclonic jerks associated with acute Epstein-Barr virus infection. We suggest that acute myoclonic seizures with a transiently abnormal EEG and benign course can be associated with acute Epstein-Barr virus infection.

Winging of the scapula in a child with hereditary multiple exostoses.

A female, 10 years of age, with hereditary multiple exostoses presented with shoulder drop and asymmetry. The results of neurologic examination were normal and winging was not accentuated by active maneuvers of the shoulder. Scapular exostosis was demonstrated to be the structural cause of scapular winging. Only a few cases of children with scapular winging caused by scapular tumors have been reported. However, tumors of the scapula should be excluded in children with static winging of the scapula.