1. Andersen EF, Baldwin EE, Ellingwood S, Smith R, Lamb AN. {{Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability}}. {Am J Med Genet A};2014 (Apr 3)
Duplications involving terminal Xq28 are a known cause of intellectual disability (ID) in males and in females with unfavorable X-inactivation patterns. Within Xq28, functional disomy of MECP2 causes a severe ID syndrome, however the dosage sensitivity of other Xq28 duplicated genes is less certain. Duplications involving the int22h-1/int22h-2 LCR-flanked region in distal Xq28 have recently been linked to a novel ID-associated phenotype. While evidence for the dosage sensitivity of this region is emerging, the phenotypic contribution of individual genes within the int22h-1/int22h-2-flanked region has yet to be determined. We report a familial case of a novel 774 kb Xq28-qter duplication, detected by cytogenomic microarray analysis, that partially overlaps the int22h-1/int22h-2-flanked region. This duplication and a 570 kb Xpter-p22.33 loss within the pseudoautosomal region were identified in three siblings, one female and two males, who presented with developmental delays/intellectual disability, mild dysmorphic features and short stature. Although unconfirmed, these results are suggestive of maternal inheritance of a recombinant X. We compare our clinical findings to patients with int22h-1/int22h-2-mediated duplications and discuss the potential pathogenicity of genes within the duplicated region, including those within the shared region of overlap, RAB39B and CLIC2. (c) 2014 Wiley Periodicals, Inc.
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2. Crais ER, McComish CS, Humphreys BP, Watson LR, Baranek GT, Reznick JS, Christian RB, Earls M. {{Pediatric Healthcare Professionals’ Views on Autism Spectrum Disorder Screening at 12-18 Months}}. {J Autism Dev Disord};2014 (Apr 4)
This study explored North Carolina pediatric healthcare professional’s (PHP) perceptions of screening 12-18 month old infants for Autism Spectrum Disorder (ASD). Eight focus groups (66 PHPs) were conducted across practice settings. The purpose was to explore PHP’s perspectives to: inform development of ASD screening tools and ultimately impact their use in PHP settings. PHPs reported concerns, barriers, and the need for research to support early ASD screening. Additionally, they expressed the need for: (a) clear « red flags » of ASD for 12-18 month olds; (b) socioculturally sensitive and effective screening tools; (c) effective early interventions; (d) systems to handle potential increases in referrals; and (e) continuing education. PHPs also demonstrated preferences about screening tool characteristics and processes for enhancing screening efforts.
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3. Engineer CT, Centanni TM, Im KW, Rahebi KC, Buell EP, Kilgard MP. {{Degraded speech sound processing in a rat model of fragile X syndrome}}. {Brain Res};2014 (Apr 5)
Fragile X syndrome is the most common inherited form of intellectual disability and the leading genetic cause of autism. Impaired phonological processing in fragile X syndrome interferes with the development of language skills. Although auditory cortex responses are known to be abnormal in fragile X syndrome, it is not clear how these differences impact speech sound processing. This study provides the first evidence that the cortical representation of speech sounds is impaired in Fmr1 knockout rats, despite normal speech discrimination behavior. Evoked potentials and spiking activity in response to speech sounds, noise burst trains, and tones were significantly degraded in primary auditory cortex, anterior auditory field and the ventral auditory field. Neurometric analysis of speech evoked activity using a pattern classifier confirmed that activity in these fields contains significantly less information about speech sound identity in Fmr1 knockout rats compared to control rats. Responses were normal in the posterior auditory field, which is associated with sound localization. The greatest impairment was observed in the ventral auditory field, which is related to emotional regulation. Dysfunction in the ventral auditory field may contribute to poor emotional regulation in fragile X syndrome and may help explain the observation that later auditory evoked responses are more disturbed in fragile X syndrome compared to earlier responses. Rodent models of fragile X syndrome are likely to prove useful for understanding the biological basis of fragile X syndrome and for testing candidate therapies.
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4. Ghaeli P, Nikvarz N, Alaghband-Rad J, Alimadadi A, Tehrani-Doost M. {{Effects of risperidone on core symptoms of autistic disorder based on childhood autism rating scale: an open label study}}. {Indian J Psychol Med};2014 (Jan);36(1):66-70.
BACKGROUND: The aim of the present study was to evaluate the effect of risperidone in patients afflicted by autistic disorder especially with regards to its three core symptoms, including « relating to others », « communication skills », and « stereotyped behaviors » based on Childhood Autism Rating Scale (CARS). MATERIALS AND METHODS: An 8-week open-label study of risperidone for treatment of autistic disorder in children 4-17 years old was designed. Risperidone dose titration was as follow: 0.02 mg/kg/day at the first week, 0.04 mg/kg/day at the second week, and 0.06 mg/kg/day at the third week and thereafter. The outcome measures were scores obtained by CARS, Aberrant Behavior Checklist (ABC), and Clinical Global Impression-Improvement (CGI-I) scale. RESULTS: Fifteen patients completed this study. After 8 weeks, CARS total score decreased significantly, (P=0.001). At the end of the study, social interactions and verbal communication skills of the patients were significantly improved (P<0.001, P=0.03, respectively). However, stereotypic behaviors did not show any significant change in this study. Increase in appetite and somnolence were the most reported side effects. CONCLUSION: This study suggests that risperidone may be an effective treatment for the management of core symptoms of autistic disorder.
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5. Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. {{Epidemiology of fragile X syndrome: A systematic review and meta-analysis}}. {Am J Med Genet A};2014 (Apr 3)
Prevalence estimates for fragile X syndrome vary considerably. This systematic review and meta-analysis was conducted to provide an accurate prevalence estimate for this disorder using primary publications in PubMed, Embase, and the Cochrane library. Data were pooled using Bayesian fixed-effects and random-effects models. Primary analyses assessed the frequency of the full mutation and premutation in males and females in the total population (no bias against individuals with intellectual disability) and in female carriers of the premutation in normal populations (biased against individuals with intellectual disability), based on diagnosis by polymerase chain reaction or Southern blotting. A sensitivity analysis included studies using any diagnostic testing method and conference abstracts. Sixty-eight recorded observations provided data for the primary (56 observations) and sensitivity (12 observations) analysis. Using the random-effects model, frequency of the full mutation was 1.4 (95% CI: 0.1-3.1) per 10,000 males and 0.9 (95% CI: 0.0-2.9) per 10,000 females (1:7,143 and 1:11,111, respectively) in the total population. The premutation frequency was 11.7 (95% CI: 6.0-18.7) per 10,000 males and 34.4 (95% CI: 6.3-83.3) per 10,000 for females (1:855 and 1:291, respectively) in the total population. The prevalence of female carriers of the premutation in the normal population was 34.4 (95% CI: 8.9-60.3) per 10,000, or 1:291. Sensitivity analyses resulted in similar prevalence estimates but with wider heterogeneity. Prevalence estimates for the full mutation from this meta-analysis are lower than those in previous reviews of fragile X syndrome epidemiological data. (c) 2014 Wiley Periodicals, Inc.
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6. J U, M MV, J P, Srinivasan I. {{Autism Disorder (AD): An Updated Review for Paediatric Dentists}}. {J Clin Diagn Res};2014 (Feb);8(2):275-279.
Over the past two decades, there has been an explosion of interest in Autism Disorder (AD). Knowledge and awareness on the condition has grown exponentially at all levels among the general public, parents, health professionals, the research community and more recently, at parliamentary level. The world has begun to recognize the scope of this problem and act internationally and locally to improve the lives of the growing number of individuals and families affected by this devastating disorder. This article reviews the dental literature since 1969 and it summarizes characteristics of patients with AD, oral health status and dental management of patients with AD.
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7. Mastrogiuseppe M, Capirci O, Cuva S, Venuti P. {{Gestural communication in children with autism spectrum disorders during mother-child interaction}}. {Autism};2014 (Apr 3)
Children with autism spectrum disorders display atypical development of gesture production, and gesture impairment is one of the determining factors of autism spectrum disorder diagnosis. Despite the obvious importance of this issue for children with autism spectrum disorder, the literature on gestures in autism is scarce and contradictory. The purpose of this study was to analyze gestural communication in children with autism spectrum disorder during spontaneous mother-child interaction. Participants were children with autism spectrum disorder (n = 20), Down’s syndrome (n = 20), and typical development (n = 20) and their mothers. Children’s mean developmental age was 24.16 months (standard deviation = 1.45 months) and did not differ across the groups. Gestural communication was analyzed with a specific coding scheme allowing a quantitative and qualitative analysis of gestural production. Results showed the following: (a) differences between autism spectrum disorder, typical development, and Down’s syndrome groups in the total number of gestures produced; (b) differences between the three groups in the distribution of gesture types; and (c) specific correlations between gestural production, cognitive development, and autism severity scores. The study of gestures in autism spectrum disorder could help us to identify different phenotypes in autism and could also lead to the development of new therapies.
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8. Nakajima J, Okamoto N, Tohyama J, Kato M, Arai H, Funahashi O, Tsurusaki Y, Nakashima M, Hisashi K, Saitsu H, Matsumoto N, Miyake N. {{De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability and, autistic behaviors and epilepsy}}. {Clin Genet};2014 (Apr 3)
Eukaryotic elongation factor 1, alpha-2 (eEF1A2) protein is involved in protein synthesis, suppression of apoptosis, and regulation of actin function and cytoskeletal structure. EEF1A2 gene is highly expressed in the central nervous system and Eef1a2 knockout mice show the neuronal degeneration. Until now, only one missense mutation (c.208G>A, p.Gly70Ser) in EEF1A2 has been reported in two independent patients with neurological disease. In this report, we described two patients with de novo mutations (c.754G>C, p.Asp252His and c.364G>A, p.Glu122Lys) in EEF1A2 found by whole exome sequencing. Common clinical features are shared by all four individuals: severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly. Furthermore, the two patients share the similar characteristic facial features including a depressed nasal bridge, tented upper lip, everted lower lip and downturned corners of the mouth. These data strongly indicate that a new recognizable disorder is caused by EEF1A2 mutations.
