6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities.

Interstitial deletions on the long arm of chromosome six have been described for several regions including 6q16, 6q22.1, and 6q21q22.1, and with variable phenotypes such as intellectual disability/developmental delay, growth retardation, major and minor facial anomalies. However, an isolated microdeletion of the sub-band 6q22.33 has not been reported so far and thus, no information about the specific phenotype associated with such a copy number variant is available. Here, we define the clinical picture of an isolated 6q22.33 microdeletion based on the phenotype of six members of one family with loss of approximately 1 Mb in this region. Main clinical features include mild intellectual disability and behavioral abnormalities as well as microcephaly, heart defect, and cleft lip and palate.

Training-induced plasticity of the social brain in autism spectrum disorder.

BACKGROUND: Autism spectrum disorder (ASD) is linked to social brain activity and facial affect recognition (FAR). AIMS: To examine social brain plasticity in ASD. METHOD: Using FAR tests and functional magnetic resonance imaging tasks for FAR, we compared 32 individuals with ASD and 25 controls. Subsequently, the participants with ASD were assigned to FAR computer-aided cognitive training or a control group. RESULTS: The ASD group performed more poorly than controls on explicit behavioural FAR tests. In the scanner, during implicit FAR, the amygdala, fusiform gyrus and other regions of the social brain were less activated bilaterally. The training group improved on behavioural FAR tests, and cerebral response to implicit affect processing tasks increased bilaterally post-training in the social brain. CONCLUSIONS: Individuals with ASD show FAR impairments associated with hypoactivation of the social brain. Computer-based training improves explicit FAR and neuronal responses during implicit FAR, indicating neuroplasticity in the social brain in ASD.

Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.

MYO1A is considered the gene underlying autosomal dominant nonsyndromic hearing loss DFNA48, based on six missense variants, one small in-frame insertion, and one nonsense mutation. Results from NGS targeting 66 deafness genes in 109 patients identified three families challenging this assumption: two novel nonsense (p.Tyr740* and p.Arg262*) and a known missense variant were identified heterozygously not only in index patients, but also in unaffected relatives. Deafness in these families clearly resulted from mutations in other genes (MYO7A, EYA1, and CIB2). Most of the altogether 10 MYO1A mutations are annotated in dbSNP, and population frequencies (dbSNP, 1000 Genomes, Exome Sequencing Project) above 0.1% contradict pathogenicity under a dominant model. One healthy individual was even homozygous for p.Arg262*, compatible with homozygous Myo1a knockout mice lacking any overt pathology. MYO1A seems dispensable for hearing and overall nonessential. MYO1A adds to the list of "erroneous disease genes", which will expand with increasing availability of large-scale sequencing data.

[Getting through to adolescents "online". The use of web-based programs for stress-prevention in youth]. / Sind Jugendliche "online" besser zu erreichen? Zur Internetnutzung bei Stresspräventionsmassnahmen für Jugendliche.

Adolescents can be regarded as a difficult target group for health promotion efforts. Therefore, possibilities and limitations in the use of the internet for stress prevention in adolescents are explored in two empirical studies. The first study with 1988 adolescents in grades seven to nine examines to what extent the internet is used by adolescents and the importance of the internet as a contact point for the solution of problems with school, parents etc. In the second study with 155 adolescents in grades seven and eight, an E-support accompanying a stress prevention program was offered. The main research question of this study was related to the use of the internet-based E-support. The results show that interest in using internetservices in the attempt to solve personal problems is not high and that the actual utilisation within the context of the stress prevention program is also not optimal. There are nevertheless constellations which increase the probability of E-support usage (for example in the case of increased stress experiences or increased stress symptomatologies). The consequences which can be drawn from the studies are evaluated and discussed.