1. Atladottir HO, Schendel DE, Lauritsen MB, Henriksen TB, Parner ET. {{Patterns of Contact with Hospital for Children with an Autism Spectrum Disorder: A Danish Register-Based Study}}. {J Autism Dev Disord};2011 (Dec 10)
The aim of this study was to study patterns of contact with hospital for children with autism spectrum disorder (ASD) using Danish population based register data. We included all children born in Denmark from 1994 through 2002. We found that children diagnosed with ASD had an increased rate of contact with hospital, almost regardless of the cause for the hospital contact. Given the overall association between hospital contact for various causes and ASD observed in these data, hospital data should be used cautiously in future studies searching for associations between a specific disease and ASD. If the increased rate of hospital contact overall for children with ASD is not considered, then misleading over interpretations might be made of observed associations between specific diseases and ASD.
Lien vers le texte intégral (Open Access ou abonnement)
2. Hallett V, Ronald A, Rijsdijk F, Happe F. {{Disentangling the Associations Between Autistic-Like and Internalizing Traits: A Community Based Twin Study}}. {J Abnorm Child Psychol};2011 (Dec 10)
Internalizing difficulties are prevalent in children with autism spectrum disorders (ASD), yet little is known about the underlying cause of this comorbidity. It is also unclear which types of autistic-like and internalizing difficulties are most strongly associated. The current study investigated the phenotypic and etiological associations between specific autistic-like traits and internalizing traits within a population-based sample. Parent-reported data were analyzed from 7,311 twin pairs at age 7 to 8 years. Structural equation modeling revealed distinguishable patterns of overlap between the three autistic-like traits (social difficulties, communication problems and repetitive/restricted behaviors) and four subtypes of internalizing traits (social anxiety, fears, generalized anxiety, negative affect). Although all phenotypic associations were modest (rph = 0.00-0.36), autistic-like communication impairments and repetitive/restricted behaviors correlated most strongly with generalized anxiety and negative affect both phenotypically and genetically. Conversely, autistic-like social difficulties showed little overlap with internalizing behaviors. Disentangling these associations and their etiological underpinnings may help contribute to the conceptualization and diagnosis of ‘comorbidity’ within ASD and internalizing disorders.
Lien vers le texte intégral (Open Access ou abonnement)
3. Malow B, Adkins KW, McGrew SG, Wang L, Goldman SE, Fawkes D, Burnette C. {{Melatonin for Sleep in Children with Autism: A Controlled Trial Examining Dose, Tolerability, and Outcomes}}. {J Autism Dev Disord};2011 (Dec 10)
Supplemental melatonin has shown promise in treating sleep onset insomnia in children with autism spectrum disorders (ASD). Twenty-four children, free of psychotropic medications, completed an open-label dose-escalation study to assess dose-response, tolerability, safety, feasibility of collecting actigraphy data, and ability of outcome measures to detect change during a 14-week intervention. Supplemental melatonin improved sleep latency, as measured by actigraphy, in most children at 1 or 3 mg dosages. It was effective in week 1 of treatment, maintained effects over several months, was well tolerated and safe, and showed improvement in sleep, behavior, and parenting stress. Our findings contribute to the growing literature on supplemental melatonin for insomnia in ASD and inform planning for a large randomized trial in this population.
Lien vers le texte intégral (Open Access ou abonnement)
4. Zhu H, Hu Y, Zhu R, Yang Y, Zhu X, Wang W, Duan H. {{[Molecular genetic study of MECP2 gene for a patient with typical Rett syndrome.]}}. {Zhonghua Yi Xue Yi Chuan Xue Za Zhi};2011 (Dec 10);28(6):625-629.
OBJECTIVE: To provide genetic diagnosis and counseling for a 2-year-old girl with typical Rett syndrome through analyzing the methyl-CpG binding protein 2 (MECP2) gene. METHODS: Potential mutation of the MECP2 gene was screened by DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis of members of the family as well as normal controls. Lymphocyte culture for karyotype analysis was carried out for the patient to exclude chromosomal abnormalities. RESULTS: The karyotype of the girl was normal. No variation of the MECP2 gene was detected in the patient by direct sequencing. A heterozygosis variation, c.1072G>A in exon 4 of the MECP2 gene was detected in a normal female control, which was not found in other controls. The son and daughter of the female control were respectively heterozygous and homozygous carriers of the same mutation. By MLPA analysis, a heterozygosis deletion of exon 3 and part of exon 4 was detected in the patient. cDNA amplification and sequencing confirmed the presence of a 1176 bp deletion (c.27-1202del1176). The same deletion was not detected in the parents. CONCLUSION: A large deletion in MECP2 gene was detected with MLPA in a patient featuring typical Rett syndrome. The same deletion was missed by sequencing analysis. With cDNA sequencing, the breakage point of the mutation can be mapped precisely.
