1. Anello A, Reichenberg A, Luo X, Schmeidler J, Hollander E, Smith CJ, Puleo CM, Kryzak LA, Silverman JM. {{Brief Report: Parental Age and the Sex Ratio in Autism}}. {J Autism Dev Disord};2009 (May 19)
The male-to-female (M:F) ratio for autism spectrum disorders (ASD), typically about 4:1, appears to decrease with increasing paternal age, but this relationship has not been systematically tested. With 393 ASD cases from families with two or more ASD cases, we categorized paternal age into five age groups (<30, 30-34, 35-39, 40-44, 45+) and found that the M:F ratio was significantly decreased with increasing paternal age groups and remained so after also adjusting for maternal age. No significant relationship between maternal age group and the M:F ratio was observed. This study suggests that the M:F ratio is reduced with increasing paternal age consistent with de novo genetic or genomic anomalies arising more frequently as men age and then conceive children.
2. Belichenko PV, Wright EE, Belichenko NP, Masliah E, Li HH, Mobley WC, Francke U. {{Widespread changes in dendritic and axonal morphology in Mecp2-mutant mouse models of Rett syndrome: evidence for disruption of neuronal networks}}.{ J Comp Neurol};2009 (May 20);514(3):240-258.
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked gene MECP2. Girls with RTT show dramatic changes in brain function, but relatively few studies have explored the structure of neural circuits. Examining two mouse models of RTT (Mecp2B and Mecp2J), we previously documented changes in brain anatomy. Herein, we use confocal microscopy to study the effects of MeCP2 deficiency on the morphology of dendrites and axons in the fascia dentata (FD), CA1 area of hippocampus, and motor cortex following Lucifer yellow microinjection or carbocyanine dye tracing. At 3 weeks of age, most (33 of 41) morphological parameters were significantly altered in Mecp2B mice; fewer (23 of 39) were abnormal in Mecp2J mice. There were striking changes in the density and size of the dendritic spines and density and orientation of axons. In Mecp2B mice, dendritic spine density was decreased in the FD (approximately 11%), CA1 (14-22%), and motor cortex (approximately 16%). A decreased spine head size (approximately 9%) and an increased spine neck length (approximately 12%) were found in Mecp2B FD. In addition, axons in the motor cortex were disorganized. In Mecp2J mice, spine density was significantly decreased in CA1 (14-26%). In both models, dendritic swelling and elongated spine necks were seen in all areas studied. Marked variation in the type and extent of changes was noted in dendrites of adjacent neurons. Electron microscopy confirmed abnormalities in dendrites and axons and showed abnormal mitochondria. Our findings document widespread abnormalities of dendrites and axons that recapitulate those seen in RTT.
3. Bourreau Y, Roux S, Gomot M, Bonnet-Brilhault F, Barthelemy C. {{Validation of the repetitive and restricted behaviour scale in autism spectrum disorders}}. {Eur Child Adolesc Psychiatry};2009 (May 19)
Repetitive and restricted behaviours represent a common problem for various psychiatric syndromes, especially in autistic spectrum disorders, and they include a wide range of heterogeneous behavioural manifestations. An accurate and standardized description of these behaviours is needed to advance the understanding of this complex and heterogeneous clinical dimension of autism. The present article reports the reliability and validity studies of a new assessment scale: the repetitive and restricted behaviour scale. 145 subjects with autism spectrum disorders were assessed using the RRB scale. The RRB scale has good interrater reliability, internal consistency and content validity. Factorial analysis produced four clinically meaningful factors, i.e. « sensorimotor stereotypies », « reaction to change », « restricted behaviours » and « modulation insufficiency ». The RRB scale has good psychometric qualities and constitutes a real breakthrough towards a neurofunctional approach to autistic disorders. It should be valuable for research and treatment, and in clinical practice.
4. Galli-Carminati G, Deriaz N, Bertschy G. {{Melatonin in treatment of chronic sleep disorders in adults with autism: a retrospective study}}. {Swiss Med Wkly};2009 (May 16);139(19-20):293-296.
BACKGROUND: Melatonin may be used to treat sleep disorders in both children and adults with intellectual disability. The evidence for its efficacy, potential adverse effects and drug interactions are reviewed in the context of prescription of melatonin to patients with autism. METHODS: This study presents the use of melatonin to treat severe circadian sleep-wake disturbances in 6 adults with autism. Melatonin was initiated at a daily dose of 3 mg at nocturnal bedtime. If this proved ineffective, the melatonin dose was titrated over the following 4 weeks at increments of 3 mg/2 weeks up to a maximum of 9 mg, unless it was tolerated. Assessments included Clinical Global Impression-Severity (CGI-S) and CGI-Improvement (CGI-I). RESULTS: Melatonin administered in the evening dramatically improved the sleep-wake pattern in all patients. Melatonin appears to be effective in reducing sleep onset latency and is probably effective in improving nocturnal awakenings and total sleep time in adults with autism. Its effectiveness remained stable for the 6-month period of administration. Melatonin was well tolerated in all patients and no side effects were noted during the therapy. CONCLUSIONS: Melatonin appears to be promising as an efficient and seemingly safe alternative for treatment of severe circadian sleep disturbances in adults with autism. There may be heterogeneity of response depending on the nature of the sleep problem and cause of the intellectual disability or associated disabilities. Further studies are necessary before firm conclusions can be drawn and guidelines for the use of melatonin in people with autism formulated.
5. Matson JL, Dempsey T, Fodstad JC.{{ The effect of Autism Spectrum Disorders on adaptive independent living skills in adults with severe intellectual disability}}. {Res Dev Disabil};2009 (May 16)
Autism Spectrum Disorders are a class of conditions categorized by communication problems, ritualistic behaviors, and deficits in social behaviors. While evidence supporting a genetic component of Autism Spectrum Disorders (ASDs) is strong, no specific genetic marker has been identified. Thus, professionals have had to utilize intelligence tests and measures of adaptive functioning to aid in the diagnosis of individuals with ASD. The present study aimed to isolate specific differences in adaptive functioning in adults with ASD. Two hundred and thirty-four adults with ASD (Autism Spectrum Disorder) or Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) and intellectual disabilities (IDs) were evaluated with respect to the nature and extent of their independent living skill functioning. The implications of these data for more fully describing and diagnosing autism and PDD-NOS in adults are discussed.
6. Matson JL, Fodstad JC, Mahan S. {{Cutoffs, norms, and patterns of comorbid difficulties in children with developmental disabilities on the Baby and Infant Screen for Children with aUtIsm Traits (BISCUIT-Part 2)}}. {Res Dev Disabil};2009 (May 16)
Behavioral symptoms of comorbid psychopathology of 651 children 17-37 months of age who were at risk for developmental disabilities were studied using the BISCUIT-Part 2. In Study 1, norms and cutoff scores were established for this new scale on this sample. In Study 2, frequency of response on the 52 items measured was reported. Problems in eating and sleep were the most common with just over15% of the sample experiencing these difficulties of either a moderate or severe nature. For severe problems, the most commonly reported difficulties were inattention/impulsivity, and tantrums/conduct behavior problems. Implications of this scale and these data for early identification of behavior disorders in atypically developing children are discussed.
