1. Fueyo M, Caldwell T, Mattern SB, Zahid J, Foley T. {{The Health Home: A Service Delivery Model for Autism and Intellectual Disability}}. {Psychiatr Serv};2015 (Jul 1):appips201400443.
Autism spectrum disorder (ASD) and intellectual disability (ID) are lifelong conditions with profound impact on the functioning of affected individuals and their families. Optimizing developmental outcomes requires a lifelong perspective on treatment. The patient-centered health care home (health home) model is currently used to improve health outcomes and care integration in a variety of chronic general medical and psychiatric conditions. The authors propose the health home model as a new conceptual framework from which to build systems of care for persons with ASD or ID and their families. The authors describe essential elements of a health home for these populations, which would be located in a behavioral health setting. They also describe an existing model of such a health home, the Center for Autism and Developmental Disabilities in Pennsylvania.
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2. Godler DE, Inaba Y, Schwartz CE, Bui QM, Shi EZ, Li X, Herlihy AS, Skinner C, Hagerman RJ, Francis D, Amor DJ, Metcalfe SA, Hopper JL, Slater HR. {{Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis}}. {Expert Rev Mol Med};2015;17:e13.
Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females. XCI skewing has been also linked to abnormal X-linked gene expression with the broader clinical impact for sex chromosome aneuploidies (SCAs). In this study, 10 FREE2 CpG sites were targeted using methylation specific quantitative melt analysis (MS-QMA), including 3 sites that could not be analysed with previously used EpiTYPER system. The method was applied for detection of skewed XCI in FM females and in different types of SCA. We tested venous blood and saliva DNA collected from 107 controls (CGG < 40), and 148 FM and 90 SCA individuals. MS-QMA identified: (i) most SCAs if combined with a Y chromosome test; (ii) locus-specific XCI skewing towards the hypomethylated state in FM females; and (iii) skewed XCI towards the hypermethylated state in SCA with 3 or more X chromosomes, and in 5% of the 47,XXY individuals. MS-QMA output also showed significant correlation with the EpiTYPER reference method in FM males and females (P < 0.0001) and SCAs (P < 0.05). In conclusion, we demonstrate use of MS-QMA to quantify skewed XCI in two applications with diagnostic utility.
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3. Monteiro SA, Spinks-Franklin A, Treadwell-Deering D, Berry L, Sellers-Vinson S, Smith E, Proud M, Voigt RG. {{Prevalence of Autism Spectrum Disorder in Children Referred for Diagnostic Autism Evaluation}}. {Clin Pediatr (Phila)};2015 (Jun 29)
Increased public awareness of autism spectrum disorders (ASD) and routine screening in primary care have contributed to increased requests for diagnostic ASD evaluations. However, given the scarcity of subspecialty autism diagnostic resources, overreferral of children suspected of having ASD may be contributing to long waiting lists at tertiary care autism centers and delaying diagnosis for those children who truly have ASD. To determine whether children are being excessively referred to ASD-specific diagnostic clinics, our objective was to determine the prevalence of true ASD diagnoses in children referred for diagnostic ASD evaluation. Charts of all patients referred to a regional autism center between April 2011 and August 2012 for suspicion of a possible ASD were retrospectively reviewed and demographic and clinical diagnoses abstracted. Only 214 of 348 patients evaluated (61%) received an ASD diagnosis. Thus, concerns about autism are not confirmed by an ASD diagnosis in a significant number of children.
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4. Ogur T, Boyunaga OL. {{Relation of behavior problems with findings of cranial diffusion tensor MRI and MR spectroscopy in autistic children}}. {Int J Clin Exp Med};2015;8(4):5621-5630.
PURPOSE: To investigate any relation of behavior problems with cranial Diffusion Tensor Imaging (DTI) and Magnetic Resonance Spectroscopy (MRS) findings in autism spectrum disorders. MATERIALS AND METHODS: A total of 20 males children (12 autistic patients and 8 healthy controls) was examined by cranial DTI and MRS. The Aberrant Behavior Checklist (ABC) was used to calculate the irritability, lethargy-social withdrawal, stereotypic behavior, hyperactivity, and speech disorder scores for each patient. The results of MRS and DTI were evaluated together with the ABC scores. RESULTS: Fractional anisotropy (FA) values demonstrated significant decreases in the left frontoparietal white matter, anterior limb of the right internal capsule, and left middle cerebellar peduncle as the behavior problem scores elevated (P < 0.05). With the exception of social withdrawal, as the behavior problem scores increased, metabolite levels increased, as well. CONCLUSION: The positive correlation between the MRS findings, behavior problem scores, and metabolite levels suggests the presence of a dysfunction leading to hypo and hyper neuronal function in various locations. Reduced FA values in DTI and negative correlation of behavior problems with FA values in the contralateral hemisphere, may indicate reduced myelination and abnormal axonal organization.
5. Parisi L, Di Filippo T, Roccella M. {{Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases}}. {Minerva Pediatr};2015 (Aug);67(4):369-375.
Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a rare genetic disorder first diagnosed in 1981. Kabuki make-up syndrome (KMS) is a multiple malformation/intellectual disability syndrome that was first described in Japan but is now reported in many other ethnic groups. KMS is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; intellectual disability; and short stature. Other findings may include: congenital heart defects, genitourinary anomalies, cleft lip and/or palate, gastrointestinal anomalies including anal atresia, ptosis and strabismus, and widely spaced teeth and hypodontia. The KS is associated with mutations in the MLL2 gene in some cases were also observed deletions of KDM6A. This study describes three children with autism spectrum disorders (ASDs) and KS and rehabilitative intervention that must be implemented.
6. Tateno M, Teo AR, Tateno Y. {{Eleven year follow-up of a boy with Asperger syndrome and comorbid gender identity disorder of childhood}}. {Psychiatry Clin Neurosci};2015 (Jul 1)
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7. Tilford JM, Payakachat N, Kuhlthau KA, Pyne JM, Kovacs E, Bellando J, Williams DK, Brouwer WB, Frye RE. {{Treatment for Sleep Problems in Children with Autism and Caregiver Spillover Effects}}. {J Autism Dev Disord};2015 (Jul 1)
Sleep problems in children with autism spectrum disorders (ASD) are under-recognized and under-treated. Identifying treatment value accounting for health effects on family members (spillovers) could improve the perceived cost-effectiveness of interventions to improve child sleep habits. A prospective cohort study (N = 224) was conducted with registry and postal survey data completed by the primary caregiver. We calculated quality of life outcomes for the child and the primary caregiver associated with treatments to improve sleep in the child based on prior clinical trials. Predicted treatment effects for melatonin and behavioral interventions were similar in magnitude for the child and for the caregiver. Accounting for caregiver spillover effects associated with treatments for the child with ASD increases treatment benefits and improves cost-effectiveness profiles.
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8. Wakimizu R, Fujioka H. {{Analysis of the Issues and Needs of Parents of Children With Developmental Disabilities in Japan Using Focus Group Interviews}}. {J Nurs Res};2015 (Jun 30)
BACKGROUND: The number of Japanese children with developmental disabilities (DDs) has seen a steady increase in recent years. The parents and families of children with DD experience distress both at the time of DD diagnosis and afterward. AIM: This study aimed to elucidate the issues and needs of the parents of children with DD to facilitate the development of effective support strategies necessary to help the family handle the special needs of their child with DD. METHODS: Japanese-speaking parents with children who were aged 3-14 years and currently being treated in a hospital for DDs were invited to participate in one of three focus groups. A trained moderator led each 90-minute audio-recorded group using a semistructured interview guide. All transcripts were coded using thematic content analysis. RESULTS: Six categories of parents’ significant issues were identified, with three of the categories classified as critical needs. CONCLUSIONS: The issues and needs identified in this study are useful for developing an effective family support program and a related performance framework. Key concerns include providing relevant information support, providing counseling and consultation support for parents and siblings, and providing resources to children with DD that are necessary to help them deal effectively with their disabilities.
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9. Wijnhoven LA, Creemers DH, Engels RC, Granic I. {{The effect of the video game Mindlight on anxiety symptoms in children with an Autism Spectrum Disorder}}. {BMC Psychiatry};2015;15:138.
BACKGROUND: In the clinical setting, a large proportion of children with an autism spectrum disorder (ASD) experience anxiety symptoms. Because anxiety is an important cause of impairment for children with an ASD, it is necessary that effective anxiety interventions are implemented for these children. Recently, a serious game called Mindlight has been developed that is focused on decreasing anxiety in children. This approach is based on recent research suggesting that video games might be suitable as an intervention vehicle to enhance mental health in children. In the present study it will be investigated whether Mindlight is effective in decreasing (sub) clinical anxiety symptoms in children who are diagnosed with an ASD. METHODS/DESIGN: The present study involves a randomized controlled trial (RCT) with two conditions (experimental versus control), in which it is investigated whether Mindlight is effective in decreasing (sub) clinical anxiety symptoms in children with an ASD. For this study, children of 8-16 years old with a diagnosis of an ASD and (sub) clinical anxiety symptoms will be randomly assigned to the experimental (N = 60) or the control (N = 60) condition. Children in the experimental condition will play Mindlight for one hour per week, for six consecutive weeks. Children in the control condition will play the puzzle game Triple Town, also for one hour per week and for six consecutive weeks. All children will complete assessments at baseline, post-intervention and 3-months follow-up. Furthermore, parents and teachers will also complete assessments at the same time points. The primary outcome will be child report of anxiety symptoms. Secondary outcomes will be parent report of child anxiety, child/parent report of depressive symptoms, and parent/teacher report of social functioning and behavior problems. DISCUSSION: This paper aims to describe a study that will examine the effect of the serious game Mindlight on (sub) clinical anxiety symptoms of children with an ASD in the age of 8-16 years old. It is expected that children in the experimental condition will show lower levels of anxiety symptoms at 3-months follow-up, compared to children in the control condition. If Mindlight turns out to be effective, it could be an important contribution to the already existing interventions for anxiety in children with an ASD. Mindlight could then be implemented as an evidence-based treatment for anxiety symptoms in children with an ASD in mental health institutes and special education schools. TRIAL REGISTRATION: Dutch Trial Register NTR5069 . Registered 20 April 2015.
