1. Almeida DM, Jean MR, Chystsiakova A, Monahan E, Oliveira SB, Monteiro IM. {{Levetiracetam-associated acute pancreatitis in an adolescent with autism: a case report}}. {Pancreas}. 2013; 42(1): 177-8.
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2. Foster L, Dunn W, Lawson LM. {{Coaching Mothers of Children with Autism: A Qualitative Study for Occupational Therapy Practice}}. {Phys Occup Ther Pediatr}. 2012.
ABSTRACT The purpose of this study was to understand the perceptions of mothers of children with autism spectrum disorder (ASD) who participated in 10 one-hour coaching sessions. Coaching occurred between an occupational therapist and mother and consisted of information sharing, action, and reflection. Researchers asked 10 mothers six open-ended questions with follow-up probes related to their experiences with coaching. Themes were identified, labeled, and categorized. Themes emerged related to relationships, analysis, reflection, mindfulness, and self-efficacy. Findings indicate that parents perceive the therapist-parent relationship, along with analysis and reflection, as core features that facilitate increased mindfulness and self-efficacy. The findings suggest that how an intervention is provided can lead to positive outcomes, including increased mindfulness and self-efficacy.
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3. O’Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O’Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. {{Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders}}. {Science}. 2012; 338(6114): 1619-22.
Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de novo mutations but few recurrently disrupted genes. We therefore developed a modified molecular inversion probe method enabling ultra-low-cost candidate gene resequencing in very large cohorts. To demonstrate the power of this approach, we captured and sequenced 44 candidate genes in 2446 ASD probands. We discovered 27 de novo events in 16 genes, 59% of which are predicted to truncate proteins or disrupt splicing. We estimate that recurrent disruptive mutations in six genes-CHD8, DYRK1A, GRIN2B, TBR1, PTEN, and TBL1XR1-may contribute to 1% of sporadic ASDs. Our data support associations between specific genes and reciprocal subphenotypes (CHD8-macrocephaly and DYRK1A-microcephaly) and replicate the importance of a beta-catenin-chromatin-remodeling network to ASD etiology.
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4. Oyabu A, Tashiro Y, Oyama T, Ujihara K, Ohkawara T, Ida-Eto M, Narita M. {{Morphology of the facial motor nuclei in a rat model of autism during early development}}. {Int J Dev Neurosci}. 2012.
The development of facial nuclei in animal models of disease is poorly understood, but autism is sometimes associated with facial palsy. In the present study, to investigate migration of facial neurons and initial facial nucleus formation in an animal model of autism, rat embryos were treated with valproic acid (VPA) in utero at embryonic day (E) 9.5 and their facial nuclei were analyzed by in situ hybridization at E13.5, E14.5 and E15.5. Signals for Tbx20, which is expressed in early motor neurons, appeared near the floor plate at the level of the vestibular ganglion and extended caudolaterally, where they became ovoid in shape. This pattern of development was similar between control and VPA-exposed embryos. However, measurements of the migratory pathway and the size of the facial nuclei revealed that exposure to VPA hindered the caudal migration of neurons to the facial nuclei. Signals for cadherin 8, which is expressed in mature facial nuclei, revealed that exposure to VPA caused a significant reduction in the size of the facial nuclei. Our findings provide the first quantitative description of tangential migration and nucleus formation in the developing hindbrain in a rat model of autism.
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5. Petersen AK, Ahmad A, Shafiq M, Brown-Kipphut B, Fong CT, Iqbal MA. {{Deletion 1q43 Encompassing Only CHRM3 in a Patient with Autistic Disorder}}. {Eur J Med Genet}. 2012.
Deletions on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotypes which include intellectual disability, autism, seizures, microcephaly/craniofacial dysmorphology, corpus callosal agenesis/hypogenesis, cardiac and genital anomalies, hand and foot abnormalities and short stature. Genotype-phenotype correlation reported a minimum region of 2 Mb at 1q43q44. We report on a 3 (1/2) year old male patient diagnosed with autistic disorder who has social withdrawal, eating problems, repetitive stereotypic behaviors including self-injurious head banging and hair pulling, and no seizures, anxiety, or mood swings. Array comparative genomic hybridization (aCGH) showed an interstitial deletion of 473 Kb at 1q43 region (239,412,391- 239,885,394; NCBI build37/hg19) harboring only CHRM3 (Acetylcholine Receptor, Muscarinic, 3; OMIM: 118494). Recently, another case with a de novo interstitial deletion of 911 kb at 1q43 encompassing three genes including CHRM3 was reported. The M3 muscarinic receptor influences a multitude of central and peripheral nervous system processes via its interaction with acetylcholine and may be an important modulator of behavior, learning and memory. We propose CHRM3 as a candidate gene responsible for our patient’s specific phenotype as well as the overlapping phenotypic features of other patients with 1q43 or 1q43q44 deletions.
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6. Polderman TJ, Hoekstra RA, Vinkhuyzen AA, Sullivan PF, van der Sluis S, Posthuma D. {{Attentional switching forms a genetic link between attention problems and autistic traits in adults}}. {Psychol Med}. 2012: 1-12.
BACKGROUND: Attention deficit hyperactivity disorder (ADHD) symptoms and autistic traits often occur together. The pattern and etiology of co-occurrence are largely unknown, particularly in adults. This study investigated the co-occurrence between both traits in detail, and subsequently examined the etiology of the co-occurrence, using two independent adult population samples. Method Data on ADHD traits (Inattention and Hyperactivity/Impulsivity) were collected in a population sample (S1, n = 559) of unrelated individuals. Data on Attention Problems (AP) were collected in a population-based family sample of twins and siblings (S2, n = 560). In both samples five dimensions of autistic traits were assessed (social skills, routine, attentional switching, imagination, patterns). RESULTS: Hyperactive traits (S1) did not correlate substantially with the autistic trait dimensions. For Inattention (S1) and AP (S2), the correlations with the autistic trait dimensions were low, apart from a prominent correlation with the attentional switching scale (0.47 and 0.32 respectively). Analyses in the genetically informative S2 revealed that this association could be explained by a shared genetic factor. CONCLUSIONS: Our findings suggest that the co-occurrence of ADHD traits and autistic traits in adults is not determined by problems with hyperactivity, social skills, imagination or routine preferences. Instead, the association between those traits is due primarily to shared attention-related problems (inattention and attentional switching capacity). As the etiology of this association is purely genetic, biological pathways involving attentional control could be a promising focus of future studies aimed at unraveling the genetic causes of these disorders.
