1. Al-Owain M, Kaya N, Al-Shamrani H, Al-Bakheet A, Qari A, Al-Muaigl S, Ghaziuddin M. {{Autism spectrum disorder in a child with propionic acidemia}}. {JIMD Rep};2013;7:63-66.
Autism is a neurodevelopmental disorder characterized by a combination of reciprocal social deficits, communication impairment, and rigid ritualistic interests. While autism does not have an identifying cause in most of the cases, it is associated with known medical conditions in at least 10% of cases. Although uncommon, cases of autism have also been reported in association with metabolic disorders. In this brief report, we describe the occurrence of autism in a 7-year-old girl with propionic acidemia (PA), a common form of organic aciduria resulting from the deficiency of propionyl-CoA carboxylase and characterized by frequent and potentially lethal episodes of metabolic acidosis often accompanied by hyperammonemia. It is particularly common in countries with high rates of consanguinity. Early diagnosis of autism in patients with metabolic disorders is important since autistic features are sometimes the most disruptive of all the child’s problems. This facilitates providing the needed behavioral services not otherwise available for children with metabolic disorders.
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2. Bekele E, Zheng Z, Swanson A, Crittendon J, Warren Z, Sarkar N. {{Understanding how adolescents with autism respond to facial expressions in virtual reality environments}}. {IEEE Trans Vis Comput Graph};2013 (Apr);19(4):711-720.
Autism Spectrum Disorders (ASD) are characterized by atypical patterns of behaviors and impairments in social communication. Among the fundamental social impairments in the ASD population are challenges in appropriately recognizing and responding to facial expressions. Traditional intervention approaches often require intensive support and well-trained therapists to address core deficits, with many with ASD having tremendous difficulty accessing such care due to lack of available trained therapists as well as intervention costs. As a result, emerging technology such as virtual reality (VR) has the potential to offer useful technology-enabled intervention systems. In this paper, an innovative VR-based facial emotional expression presentation system was developed that allows monitoring of eye gaze and physiological signals related to emotion identification to explore new efficient therapeutic paradigms. A usability study of this new system involving ten adolescents with ASD and ten typically developing adolescents as a control group was performed. The eye tracking and physiological data were analyzed to determine intragroup and intergroup variations of gaze and physiological patterns. Performance data, eye tracking indices and physiological features indicated that there were differences in the way adolescents with ASD process and recognize emotional faces compared to their typically developing peers. These results will be used in the future for an online adaptive VR-based multimodal social interaction system to improve emotion recognition abilities of individuals with ASD.
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3. Burns TG, King TZ, Spencer KS. {{Mullen scales of early learning: the utility in assessing children diagnosed with autism spectrum disorders, cerebral palsy, and epilepsy}}. {Appl Neuropsychol Child};2013 (Jan);2(1):33-42.
A group of 47 patients diagnosed with neurodevelopmental disorders were compared to 47 age-, gender-, and racially matched typically developing children to examine the frequency of impairment across domains of the Mullen Scales of Early Learning (MSEL). The MSEL is a comprehensive measure of cognitive functioning designed to assess infants and preschool children between the ages of birth to 68 months. In the neurodevelopmental group, the sample was composed of children 2 to 4 years of age who were diagnosed with autism spectrum disorders (ASD; n = 19), cerebral palsy (CP; n = 14), and epilepsy (EPI; n = 14). A sample of 47 matched controls, taken from the normative sample of the MSEL, was used as a comparison group. Each one of the clinical groups comprising the neurodevelopmental sample demonstrated statistically significant delays across domains relative to the respective matched control group (p < .001). Children failed to demonstrate a « signature » profile for a diagnosis of ASD, CP, or EPI. The clinical sensitivity of the MSEL and the need for obtaining specific intervention services for children diagnosed with these conditions are presented. Finally, these results are discussed within the context of the clinical sensitivity of the MSEL in working with these clinical populations.
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4. Halbach NS, Smeets EE, Bierau J, Keularts IM, Plasqui G, Julu PO, Engerstrom IW, Bakker JA, Curfs LM. {{Altered carbon dioxide metabolism and creatine abnormalities in rett syndrome}}. {JIMD Rep};2012;3:117-124.
Despite their good appetite, many females with Rett syndrome (RTT) meet the criteria for moderate to severe malnutrition. Although feeding difficulties may play a part in this, other constitutional factors such as altered metabolic processes are suspected. Irregular breathing is a common clinical feature, leading to chronic respiratory alkalosis or acidosis. We assumed that these changes in intracellular pH cause disturbances in the metabolic equilibrium, with important nutritional consequences. The study population consisted of a group of thirteen well-defined RTT girls with extended clinical, molecular and neurophysiological assessments. Despite normal levels of total dietary energy and protein intakes, malnutrition was confirmed based on significantly low fat-free mass index (FFMI) values. Biochemical screening of multiple metabolic pathways showed significantly elevated plasma creatine concentrations and increased urinary creatine/creatinine ratio in five RTT girls. Four girls, 10 years and older, were forceful breathers, one 13-year-old girl had an undetermined cardiorespiratory phenotype. An isolated increase of the urinary creatine/creatinine ratio was seen in two girls, a 9-year old forceful and a 4-year old feeble breather. Given that the young girls are feeble breathers and the older girls are forceful breathers, it is impossible to determine whether the elevated creatine concentrations are due to increasing age or cardiorespiratory phenotype. Furthermore, MeCP2 deficiency may cause epigenetic aberrations affecting the expression of the creatine-transporter gene, which is located at Xq28. Further studies are required to confirm these findings and to provide greater insight into the pathogenesis of the abnormal creatine metabolism in RTT.
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5. Magalhaes CG, Barbosa PG, Abreu CS, Cardoso-Martins C. {{Early joint attention deficits in autism: evidence from a retrospective case study}}. {Rev Bras Psiquiatr};2012 (Dec);34(4):509-510.
6. Robinson EB, Lichtenstein P, Anckarsater H, Happe F, Ronald A. {{Examining and interpreting the female protective effect against autistic behavior}}. {Proc Natl Acad Sci U S A};2013 (Feb 19)
Male preponderance in autistic behavioral impairment has been explained in terms of a hypothetical protective effect of female sex, yet little research has tested this hypothesis empirically. If females are protected, they should require greater etiologic load to manifest the same degree of impairment as males. The objective of this analysis was to examine whether greater familial etiologic load was associated with quantitative autistic impairments in females compared with males. Subjects included 3,842 dizygotic twin pairs from the Twins Early Development Study (TEDS) and 6,040 dizygotic twin pairs from the Child and Adolescent Twin Study of Sweden (CATSS). In both samples, we compared sibling autistic traits between female and male probands, who were identified as children scoring in the top 90th and 95th percentiles of the population autistic trait distributions. In both TEDS and CATSS, siblings of female probands above the 90th percentile had significantly more autistic impairments than the siblings of male probands above the 90th percentile. The siblings of female probands above the 90th percentile also had greater categorical recurrence risk in both TEDS and CATSS. Results were similar in probands above the 95th percentile. This finding, replicated across two nationally-representative samples, suggests that female sex protects girls from autistic impairments and that girls may require greater familial etiologic load to manifest the phenotype. It provides empirical support for the hypothesis of a female protective effect against autistic behavior and can be used to inform and interpret future gene finding efforts in autism spectrum disorders.
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7. Schupp CW, Simon D, Corbett BA. {{Cortisol Responsivity Differences in Children with Autism Spectrum Disorders During Free and Cooperative Play}}. {J Autism Dev Disord};2013 (Feb 22)
Children with autism spectrum disorder (ASD) demonstrate significant heterogeneity in their profiles of social interaction and stress responsivity. We evaluated behavior and stress response in 52 male children ages 8-12 in a naturalistic playground interaction paradigm involving a child with ASD, a typically developing peer, and a same-age confederate. Younger children in the ASD group engaged in 5.8 times more approach behavior and showed a lower cortisol response than their older peers. Those that verbally initiated with their peers also showed a higher cortisol response. Older children with ASD exhibited the highest stress responsivity, while younger children with ASD showed more willingness to approach others without apparent stress. Intervening early and often may contribute to improvements in social engagement in youth with ASD.
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8. Wainer AL, Block N, Donnellan MB, Ingersoll B. {{The Broader Autism Phenotype and Friendships in Non-clinical Dyads}}. {J Autism Dev Disord};2013 (Feb 22)
The broader autism phenotype (BAP) is a set of subclinical traits qualitatively similar to those observed in autism spectrum disorders. The current study sought to elucidate the association between self- and informant-reports of the BAP and friendships, in a non-clinical sample of college student dyads. Self-informant agreement of the BAP and friendship similarity was evaluated, and the Actor-Partner Interdependence Model was used to test how both friends’ BAP characteristics jointly and uniquely contribute to the experiences of friendships. Results suggest self-informant agreement about the BAP, friendship closeness, quality, and conflict. Actor effects were observed for the BAP and friendship values, quality, conflict, and loneliness. Findings suggest that the BAP relates in meaningful ways to self-perceptions of friendship variables in the general population.
