1. Bent S, Bertoglio K, Ashwood P, Bostrom A, Hendren RL. {{A Pilot Randomized Controlled Trial of Omega-3 Fatty Acids for Autism Spectrum Disorder}}. {J Autism Dev Disord} (Aug 4)
We conducted a pilot randomized controlled trial to determine the feasibility and initial safety and efficacy of omega-3 fatty acids (1.3 g/day) for the treatment of hyperactivity in 27 children ages 3-8 with autism spectrum disorder (ASD). After 12 weeks, hyperactivity, as measured by the Aberrant Behavior Checklist, improved 2.7 (+/-4.8) points in the omega-3 group compared to 0.3 (+/-7.2) points in the placebo group (p = 0.40; effect size = 0.38). Correlations were found between decreases in five fatty acid levels and decreases in hyperactivity, and the treatment was well tolerated. Although this pilot study did not find a statistically significant benefit from omega-3 fatty acids, the small sample size does not rule out small to moderate beneficial effects.
2. Brock M, Hatton D. {{Distinguishing features of autism in boys with fragile X syndrome}}. {J Intellect Disabil Res} (Aug 5)
Background Males with fragile X syndrome and autism (FXS/autism) represent a distinct subgroup of males with FXS at risk for markedly poorer outcomes. Early identification and intervention can improve outcomes for males with autism spectrum disorder. Method To advance the development of a specialised autism screening tool for young males with FXS that could assist in early identification, backward regression was used to identify the combination of parent-report questionnaire items that best predicted autism symptoms in a sample of 60 males with FXS, ages 4-18 years old. Results Both social and repetitive behaviours distinguished males with FXS/autism, with repetitive behaviours playing a more prominent role than previously documented in the literature. Conclusions Healthcare workers and early interventionists may be able to interview parents about a few key behaviours to determine if young child with FXS should be formally evaluated for autism. Evidence-based practices identified for children with autism spectrum disorder can be implemented as early as possible.
3. Caglayan AO, Gumus H. {{Autism with del15p.11.1: case report with a new cytogenetic finding}}. {Genet Couns};21(2):199-204.
Autism with dell5Sp.11.1: case report with a new cytogenetic finding: Autism is a neurodevelopmental disorder and believed to be mainly genetic in origin, and environmental factors may modulate phenotypic expression. Less than four percent of cases of autism are associated with chromosomal abnormalities. Cytogenetic abnormalities found at the 15q11-q13 locus are reported most frequently in patients with autism. We performed GTG-banding and FISH studies to the present case and his parents and found a maternally inherited deletion on chromosome 15p in this case. With an understanding of the many genetic causes of autism, prenatal screening and counseling may one day become available for affected families as more autism-causing conditions become diagnosable.
4. de Magistris L, Familiari V, Pascotto A, Sapone A, Frolli A, Iardino P, Carteni M, De Rosa M, Francavilla R, Riegler G, Militerni R, Bravaccio C. {{Alterations of the Intestinal Barrier in Patients With Autism Spectrum Disorders and in Their First-degree Relatives}}. {J Pediatr Gastroenterol Nutr} (Jul 28)
OBJECTIVES:: Intestinal permeability (IPT) was investigated in patients with autism as well as in their first-degree relatives to investigate leaky gut hypothesis. Faecal calprotectin (FC) was also measured in patients with autism, either with or without gastrointestinal symptoms, and in their first-degree relatives. PATIENTS AND METHODS:: IPT results, assessed by means of the lactulose/mannitol test, were compared with adult and child controls and with FC values. RESULTS:: A high percentage of abnormal IPT values were found among patients with autism (36.7%) and their relatives (21.2%) compared with normal subjects (4.8%). Patients with autism on a reported gluten-casein-free diet had significantly lower IPT values compared with those who were on an unrestricted diet and controls. Gastrointestinal symptoms were present in 46.7% of children with autism: constipation (45.5%), diarrhoea (34.1%), and others (alternating diarrhoea/constipation, abdominal pain, etc: 15.9%). FC was elevated in 24.4% of patients with autism and in 11.6% of their relatives; it was not, however, correlated with abnormal IPT values. CONCLUSIONS:: The results obtained support the leaky gut hypothesis and indicate that measuring IPT could help to identify a subgroup of patients with autism who could benefit from a gluten-free diet. The IPT alterations found in first-degree relatives suggest the presence of an intestinal (tight-junction linked) hereditary factor in the families of subjects with autism.
5. Devillard F, Guinchat V, Moreno-De-Luca D, Tabet AC, Gruchy N, Guillem P, Nguyen Morel MA, Leporrier N, Leboyer M, Jouk PS, Lespinasse J, Betancur C. {{Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism}}. {Am J Med Genet A} (Aug 3)
We describe a patient with autism and a paracentric inversion of chromosome 2q14.2q37.3, with a concurrent duplication of the proximal breakpoint at 2q14.1q14.2 and a deletion of the distal breakpoint at 2q37.3. The abnormality was derived from his mother with a balanced paracentric inversion. The inversion in the child appeared to be cytogenetically balanced but subtelomere FISH revealed a cryptic deletion at the 2q37.3 breakpoint. High-resolution single nucleotide polymorphism array confirmed the presence of a 3.5 Mb deletion that extended to the telomere, and showed a 4.2 Mb duplication at 2q14.1q14.2. FISH studies using a 2q14.2 probe showed that the duplicated segment was located at the telomeric end of chromosome 2q. This recombinant probably resulted from breakage of a dicentric chromosome. The child had autism, mental retardation, speech and language delay, hyperactivity, growth retardation with growth hormone deficiency, insulin-dependent diabetes, and mild facial dysmorphism. Most of these features have been previously described in individuals with simple terminal deletion of 2q37. Pure duplications of the proximal chromosome 2q are rare and no specific syndrome has been defined yet, so the contribution of the 2q14.1q14.2 duplication to the phenotype of the patient is unknown. These findings underscore the need to explore apparently balanced chromosomal rearrangements inherited from a phenotypically normal parent in subjects with autism and/or developmental delay. In addition, they provide further evidence indicating that chromosome 2q terminal deletions are among the most frequently reported cytogenetic abnormalities in individuals with autism. (c) 2010 Wiley-Liss, Inc.
6. Indredavik MS. {{Extremely preterm children at increased risk of autism spectrum disorders}}. {Evid Based Ment Health} (Aug);13(3):92.
7. Jain D, Singh K, Chirumamilla S, Bibat GM, Blue ME, Naidu SR, Eberhart CG. {{Ocular MECP2 protein expression in patients with and without Rett syndrome}}. {Pediatr Neurol} (Jul);43(1):35-40.
Rett syndrome is a neurodevelopmental disorder caused by mutations in the methyl CpG binding protein 2 gene (MECP2). The MECP2 protein is expressed primarily in neurons, and mutations in the gene lead to the clinical features of Rett syndrome in human patients and neurologic deficits in murine models. Visual function is relatively preserved in Rett syndrome patients, but the cause is unknown. The eyes of two Rett syndrome patients who died of the disease were analyzed; no gross or microscopic changes were found. MECP2 expression was examined using immunohistochemistry; nuclear protein expression was largely limited to ganglion cells and the portion of the inner nuclear layer populated by amacrine cells. No significant differences in MECP2 protein level or distribution were identified in the two eyes from the Rett syndrome patients, compared with 11 controls. The findings were compared with MECP2 expression in the brain of these two subjects and in MECP2-deficient mice. The findings suggest that the normally limited expression of MECP2 in visual pathway neurons may underlie the intact vision observed in Rett syndrome.
8. Leu RM, Beyderman L, Botzolakis EJ, Surdyka K, Wang L, Malow BA. {{Relation of Melatonin to Sleep Architecture in Children with Autism}}. {J Autism Dev Disord} (Aug 4)
Children with autism often suffer from sleep disturbances, and compared to age-matched controls, have decreased melatonin levels, as indicated by urine levels of the primary melatonin metabolite, 6-sulfatoxymelatonin (6-SM). We therefore investigated the relationship between 6-SM levels and sleep architecture in children with autism spectrum disorders (ASD). Twenty-three children, aged 4-10 years, completed two nights of polysomnography and one overnight urine collection for measurement of urinary 6-SM excretion rate. Parents completed the Children’s Sleep Habits Questionnaire. We found that higher urinary 6-SM excretion rates were associated with increased N3 sleep, decreased N2 sleep, and decreased daytime sleepiness. The results warrant further examination to examine the effects of supplemental melatonin on sleep architecture and daytime sleepiness.
9. Maes JH, Eling PA, Wezenberg E, Vissers CT, Kan CC. {{Attentional set shifting in autism spectrum disorder: Differentiating between the role of perseveration, learned irrelevance, and novelty processing}}. {J Clin Exp Neuropsychol} (Aug 5):1-8.
10. Vanvuchelen M, Roeyers H, De Weerdt W. {{Imitation Assessment and Its Utility to the Diagnosis of Autism: Evidence from Consecutive Clinical Preschool Referrals for Suspected Autism}}. {J Autism Dev Disord} (Aug 4)
The present study sought to examine imitation difficulties as a risk factor for autism. Imitation aptitude was examined in 86 preschoolers suspected of autism (1.9-4.5 years) using the Preschool Imitation and Praxis Scale (PIPS). Differences between imitation, language, motor age-equivalents and nonverbal mental age were used to predict the diagnosis of autism. Multidisciplinary team diagnoses and ADOS-G classifications were used to differentiate children with autism spectrum disorders and non-spectrum developmental disorders. Two factors were found to be significantly associated with autism using simple logistic regression analyses: procedural imitation delay and receptive language delay. In a multivariable setting, only procedural imitation delay remained a significant predictor of autism. Results are new to the literature and require replications.
