1. Brielmaier J, Matteson PG, Silverman JL, Senerth JM, Kelly S, Genestine M, Millonig JH, Dicicco-Bloom E, Crawley JN. {{Autism-relevant social abnormalities and cognitive deficits in engrailed-2 knockout mice}}. {PLoS One};2012;7(7):e40914.
ENGRAILED 2 (En2), a homeobox transcription factor, functions as a patterning gene in the early development and connectivity of rodent hindbrain and cerebellum, and regulates neurogenesis and development of monoaminergic pathways. To further understand the neurobiological functions of En2, we conducted neuroanatomical expression profiling of En2 wildtype mice. RTQPCR assays demonstrated that En2 is expressed in adult brain structures including the somatosensory cortex, hippocampus, striatum, thalamus, hypothalamus and brainstem. Human genetic studies indicate that EN2 is associated with autism. To determine the consequences of En2 mutations on mouse behaviors, including outcomes potentially relevant to autism, we conducted comprehensive phenotyping of social, communication, repetitive, and cognitive behaviors. En2 null mutants exhibited robust deficits in reciprocal social interactions as juveniles and adults, and absence of sociability in adults, replicated in two independent cohorts. Fear conditioning and water maze learning were impaired in En2 null mutants. High immobility in the forced swim test, reduced prepulse inhibition, mild motor coordination impairments and reduced grip strength were detected in En2 null mutants. No genotype differences were found on measures of ultrasonic vocalizations in social contexts, and no stereotyped or repetitive behaviors were observed. Developmental milestones, general health, olfactory abilities, exploratory locomotor activity, anxiety-like behaviors and pain responses did not differ across genotypes, indicating that the behavioral abnormalities detected in En2 null mutants were not attributable to physical or procedural confounds. Our findings provide new insight into the role of En2 in complex behaviors and suggest that disturbances in En2 signaling may contribute to neuropsychiatric disorders marked by social and cognitive deficits, including autism spectrum disorders.
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2. Huang YP, Chen SL, Tsai SW. {{Father’s experiences of involvement in the daily care of their child with developmental disability in a Chinese context}}. {J Clin Nurs};2012 (Jul 24)
Aims and objectives. This study explored Taiwanese fathers’ experience of involvement in the daily care of a child with developmental disability within Chinese culture. Background. Most studies on parents’ experiences of having a child with a disability have focused on mothers or mixed fathers’ voices with mothers’. Focussing only on mothers and ignoring fathers may hinder the latter’s engagement with their child’s care and encourage traditional or detached fathering roles. Design. A hermeneutic phenomenological approach was applied to explore and interpret fathers’ experience. Method. Sixteen fathers were purposively sampled from a medical centre in central Taiwan. All participants were interviewed twice with semi-structured and in-depth interviews. All transcripts and journal notes were analysed with the hermeneutic circle to achieve thick descriptions that richly described the meaning of fathers’ experience. Results. Analysis of interviews with fathers on their experiences of raising the disabled child at home revealed three shared meanings: keeping hope alive, concerns about quality of medical care and maximising family function. Conclusions. Hope for their disabled child’s good outcome and future was highly significant for these fathers, but hope was diminished when their child received poor medical care or their own ability was too poor to care for the disabled child. However, fathers still did not give up working for their children and for the well-being of their families and society. Relevance to clinical practice. Nurses should acknowledge that fathers’ involvement in their disabled child’s care can contribute to the well-being of both child and family. Also, nurses should educate parents on the best possible ways to help their child. Finally, nurses need to encourage discussions between parents and professionals about their own and the family’s situation to develop a trusting and equal parent-professional relationship, thus alleviating fathers’ concerns and better meeting the child’s care needs.
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3. Lee NR, Wallace GL, Adeyemi EI, Lopez KC, Blumenthal JD, Clasen LS, Giedd JN. {{Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders}}. {J Child Psychol Psychiatry};2012 (Jul 25)
Background: Supernumerary sex chromosome aneuploidies (X/Y-aneuploidies), the presence of extra X and/or Y chromosomes, are associated with heightened rates of language impairments and social difficulties. However, no single study has examined different language domains and social functioning in the same sample of children with tri-, tetra-, and pentasomy X/Y-aneuploidy. The current research sought to fill this gap in the literature and to examine dosage effects of X and Y chromosomes on language and social functioning. Methods: Participants included 110 youth with X/Y-aneuploidies (32 female) and 52 with typical development (25 female) matched on age (mean approximately 12 years; range 4-22) and maternal education. Participants completed the Wechsler intelligence scales, and parents completed the Children’s Communication Checklist-2 and the Social Responsiveness Scale to assess language skills and autistic traits, respectively. Results: Both supernumerary X and Y chromosomes were related to depressed structural and pragmatic language skills and increased autistic traits. The addition of a Y chromosome had a disproportionately greater impact on pragmatic language; the addition of one or more X chromosomes had a disproportionately greater impact on structural language. Conclusions: Given that we link extra X chromosomes with structural language impairments and an extra Y chromosome with pragmatic language impairments, X/Y-aneuploidies may provide clues to genetic mechanisms contributing to idiopathic language impairment and autism spectrum disorders.
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4. Robertson AE, Simmons DR. {{The Relationship between Sensory Sensitivity and Autistic Traits in the General Population}}. {J Autism Dev Disord};2012 (Jul 26)
Individuals with Autism Spectrum Disorders (ASDs) tend to have sensory processing difficulties (Baranek et al. in J Child Psychol Psychiatry 47:591-601, 2006). These difficulties include over- and under-responsiveness to sensory stimuli, and problems modulating sensory input (Ben-Sasson et al. in J Autism Dev Disorders 39:1-11, 2009). As those with ASD exist at the extreme end of a continuum of autistic traits that is also evident in the general population, we investigated the link between ASD and sensory sensitivity in the general population by administering two questionnaires online to 212 adult participants. Results showed a highly significant positive correlation (r = .775, p < .001) between number of autistic traits and the frequency of sensory processing problems. These data suggest a strong link between sensory processing and autistic traits in the general population, which in turn potentially implicates sensory processing problems in social interaction difficulties.
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5. Russell-Smith SN, Bayliss DM, Maybery MT, Tomkinson RL. {{Are the Autism and Positive Schizotypy Spectra Diametrically Opposed in Empathizing and Systemizing?}}. {J Autism Dev Disord};2012 (Jul 25)
Crespi and Badcock’s (Behaviour Brain Sci 31: 241-261, 2008) novel theory, which presents autism and positive schizophrenia as diametrical opposites on a cognitive continuum, has received mixed support in the literature to date. The current study aimed to further assess the validity of this theory by investigating predictions in relation to empathizing and systemizing. Specifically, it is predicted by Crespi and Badcock that while mild autistic traits should be associated with a cognitive profile of superior mechanistic cognition (which overlaps with systemizing) but reduced mentalistic cognition (which overlaps with empathizing), positive schizotypy traits should be associated with the opposite profile of superior mentalistic but reduced mechanistic cognition. These predictions were tested in a student sample using a battery of self-report and behavioural measures. The pattern of results obtained provides no support for Crespi and Badcock’s theory.
