1. Bush RA, Stahmer AC, Connelly CD. {{Exploring perceptions and use of the electronic health record by parents of children with autism spectrum disorder: A qualitative study}}. {Health Informatics J};2015 (May 18)
This qualitative project used structured interviews with nine parents to examine perceptions of the electronic health record (EHR) and associated patient portal in the treatment of their child’s autism spectrum disorder. Thematic analysis identified six complementary themes including: Familiarity and exposure to the EHR, changing experience of care (streamlining appointments, providing more rapid medical record access, increasing clinician awareness of the complexity of their child’s medical treatment, and facilitating prescriptions), portal use, patient/EHR/portal interaction, interoperability, and mother as care coordinator. While aware of the patient portal, only one-third had registered to use it and these parents reported only limited use. In general, perceptions of the electronic health record are positive, but the patient portal has yet to have needed consumer adoption. Further research and functionality are needed to increase portal registration and greater portal integration in patient care.
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2. Cochran L, Moss J, Nelson L, Oliver C. {{Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up}}. {Am J Med Genet C Semin Med Genet};2015 (May 18)
Little is known about the way in which the characteristics of autism spectrum disorder (ASD) develop and manifest across the age span in individuals with genetic syndromes. In this study we present findings from a two and a half year follow-up of the characteristics associated with ASD in three syndromes: Cornelia de Lange (CdLS), Fragile X (FXS), and Cri du Chat (CdCS). Parents and carers of 251 individuals (CdLS = 67, CdCS = 42, and FXS = 142) completed the Social Communication Questionnaire (SCQ) at Time 1 (T1) and again two and a half years later (T2). The FXS and CdLS groups were more likely to meet the cut-offs for both autism and ASD and show greater severity of ASD related behaviors, at both T1 and T2, compared to the CdCS group. Older individuals (>15yrs) with CdLS were more likely to meet the cut off for ASD than younger individuals (</= 15yrs) with the syndrome and more likely to show greater severity of social impairments. In FXS repetitive behaviors were found to become less prominent with age and in CdCS social impairments were reported to be more severe with age. There were no significant changes between T1 and T2 in the severity of ASD characteristics in the CdCS and CdLS groups. The FXS group showed significantly fewer repetitive behaviors and less severe impairments in social interaction over this time frame. The findings suggest that while there may be similarities in overall severity and presentation of ASD characteristics in CdLS and FXS, these characteristics have divergent patterns of development within these groups. (c) 2015 Wiley Periodicals, Inc.
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3. Lee EJ, Lee H, Huang TN, Chung C, Shin W, Kim K, Koh JY, Hsueh YP, Kim E. {{Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation}}. {Nat Commun};2015;6:7168.
Genetic aspects of autism spectrum disorders (ASDs) have recently been extensively explored, but environmental influences that affect ASDs have received considerably less attention. Zinc (Zn) is a nutritional factor implicated in ASDs, but evidence for a strong association and linking mechanism is largely lacking. Here we report that trans-synaptic Zn mobilization rapidly rescues social interaction in two independent mouse models of ASD. In mice lacking Shank2, an excitatory postsynaptic scaffolding protein, postsynaptic Zn elevation induced by clioquinol (a Zn chelator and ionophore) improves social interaction. Postsynaptic Zn is mainly derived from presynaptic pools and activates NMDA receptors (NMDARs) through postsynaptic activation of the tyrosine kinase Src. Clioquinol also improves social interaction in mice haploinsufficient for the transcription factor Tbr1, which accompanies NMDAR activation in the amygdala. These results suggest that trans-synaptic Zn mobilization induced by clioquinol rescues social deficits in mouse models of ASD through postsynaptic Src and NMDAR activation.
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4. Postorino V, Sanges V, Giovagnoli G, Fatta LM, De Peppo L, Armando M, Vicari S, Mazzone L. {{Clinical differences in children with autism spectrum disorder with and without food selectivity}}. {Appetite};2015 (May 18)
Several studies have described the atypical eating behaviors frequently occurring in children with autism spectrum disorder (ASD), and food selectivity is the most frequent of these problems. The everyday management of mealtime behaviors among children with ASD can have a negative impact on family routines and become a significant stressor for families. However, much remains unknown about why food selectivity is so prevalent among individuals with ASD. The objective of this study was to investigate clinical and behavioral features in individuals with ASD with the aim of identifying distinctive clinical profiles in children with and without food selectivity. A total of 158 children with ASD were enrolled in this study: 79 participants with food selectivity (FS) were age and sex matched with 79 participants without food selectivity (No FS). All participants and their parents completed a battery of psychological tests for a comprehensive evaluation of ASD symptoms, cognitive abilities, adaptive skills, behavioral problems and parental stress level. No statistically significant difference on gastrointestinal symptoms and growth adequacy was found between the FS group and the No FS group. Overall, the FS group showed significantly higher rates of ASD symptoms as compared to the No FS group in the questionnaires completed by parents. Furthermore, parents of the FS group reported significantly higher levels of parental stress and a larger degree of their children’s behavioral problems as compared to the No FS group. Finally, there were no differences between the FS and the No FS group on any adaptive skill domain. Our findings suggest that the identification of distinctive clinical and behavioral patterns in children with ASD and food selectivity is a crucial issue for parents and therapists in the daily management.
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5. Stark Z, Francis D, Gaffney L, Greenberg J, Hills L, Li X, Godler DE, Slater HR. {{Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction}}. {Am J Med Genet A};2015 (May 18)
