Creatine Transporter Deficiency in Two Brothers with Autism Spectrum Disorder

Background

Creatine transporter deficiency (CTD) is a treatable, X-linked, inborn error of metabolism.

Case characteristics

Two brothers with autism spectrum disorder were diagnosed with CTD at the ages of 17 and 12 years. Both were found to have a previously reported hemizygous p.408delF (c.1216_1218delTTC) deletion mutation.

Outcome

Both patients were given creatine monohydrate, L-arginine, L-glycine and S-adenosylmethionine, which partially improved the behavioral problems.

Message

Serum creatinine levels, creatine peak at brain MR spectroscopy or creatine/creatinine ratio in urine should be evaluated to identify CTD in children with autistic behavior and language disorders.

     

Injuries Among Children With Autism Spectrum Disorder

ObjectiveWe compared risk of injury among children with autism spectrum disorder (ASD) to those without ASD, adjusting for demographic and clinical characteristics.MethodsWe used claims data from 2001 to 2009 from a commercial health plan in the United States. A validated ASD case identification algorithm identified 33,565 children (ages 0–20 years) with ASD and 138,876 children without. Counting process models tested the association between ASD status and injury episodes with separate regressions run for children during different age periods.ResultsUnadjusted results demonstrated that children with ASD had a 12% greater injury risk than children without ASD (hazard ratio [HR] = 1.119; P < .001). After including demographic variables, the HR was 1.03 (P < .05); after controlling for co-occurring conditions, such as seizures, depression, etc, HR decreased to 0.889 (P < .001). For the age period analysis, HR values were as follows: for 0 to 2 years, HR 1.141; 3 to 5 years, HR 1.282; 6 to 10 years, HR not significant; and 11 to 20 years, HR 0.634 (P < .05 for all significant results).ConclusionsChildren with ASD have more injuries than children without ASD. After controlling for demographic factors and co-occurring conditions, children with ASD are at lower risk of injury, suggesting that co-occurring conditions or the ways these conditions interact with ASD is related to injuries. Clinicians should understand that injury risk in children with ASD may be driven by co-occurring conditions. Treating these conditions could thus decrease injury risk as well as have other benefits. Injury prevention interventions are especially warranted for younger children with ASD and those with seizures, depression, visual impairment, or attention-deficit disorders.     

Early Identification of Young Children with Autism Spectrum Disorder

Early identification and treatment of children with autism and other developmental disorders is an international priority. Currently there is great interest in lowering the age of identification. Attention has been focused on public awareness campaigns and the regular use of developmental screening tests by health care providers, health workers and others. In this article the authors discuss the rationale for the use of autism specific screening tests, review the characteristics of selected tools, and make recommendations for the diagnostic evaluation of young children for autism spectrum disorder in an international context.     

Geographic Disparities in Treatment for Children with Autism Spectrum Disorder

ObjectiveGeographic differences may provide insight into what factors influence the likelihood that a child is diagnosed with autism spectrum disorder (ASD) in the United States; yet, there have been few nationally representative surveys that have explored this topic. The current study expands the limited literature by analyzing regional differences in ASD prevalence, service utilization, and the presence of unmet needs within a nationally representative sample of children.MethodsData were drawn from the 2014–2016 National Health Interview Survey (NHIS), a nationally representative household survey of the noninstitutionalized US population. Children 3 to 17 years of age were included in the analytic sample. Prevalence estimates accounted for the complex survey design of the NHIS, and differences between geographic regions were compared using logistic/linear regressions with and without adjustment for child/family characteristics.ResultsThe prevalence of ASD was highest in the Northeast (3.0%), followed by the Midwest (2.4%), South (2.4%), and West (2.3%). A significant difference was found between the Northeast and West (P < .05); however, after accounting for child and family characteristics, this difference was no longer significant. Children with ASD in the Northeast were the most likely to have seen a specialist in the past year. Approximately 1 in 8 children with ASD experienced at least 1 unmet need, but there were no differences found by geographic region.ConclusionsAlthough differences in prevalence were not significant after adjustment, service utilization differences remained. It appears that children with ASD in the Northeast utilize the greatest number of specialty services when compared to children with ASD from other parts of the country.     

Evidence-Based Social Communication Interventions for Children with Autism Spectrum Disorder

Impairments in social communication skills are a core feature of autism spectrum disorder (ASD) and include deficits in social-emotional reciprocity, non-verbal communicative behaviors used for social interaction, and developing, maintaining, and understanding relationships. In order to improve outcomes for children with ASD, much research has been focused on developing effective interventions to treat these social communication deficits. The purpose of this paper is to highlight the evidence-based practices found within the intervention literature that specifically targets social communication impairments and provide an overview of these strategies. Four relevant themes regarding evidence-based social communication interventions are considered and discussed: (a) social communication outcomes and practices relevant to different stages of development, (b) practices that both reduce interfering behaviors and improve social communication skills, (c) practices that utilize an eclectic combination of intervention strategies, and (d) considerations for practice and research.     

Recurrence risk in Autism Spectrum Disorder: a study of parental knowledge

AIM: To describe recurrence risk information currently being obtained by families affected by Autism Spectrum Disorder (ASD). METHODS: Structured telephone interview of parents of 21 children who received a diagnosis of ASD at Calvary Health Care Tasmania, Hobart, Australia between May 2005 and May 2006. RESULTS: Only one of the 21 parents knew their true recurrence risk. Many overestimated their risk substantially, and in four cases this had led to a decision against increasing family size. Eleven parents said they had received no information about recurrence risk, and only one cited medical practitioners as a source of information about recurrence risk. CONCLUSION: Current provision of information about recurrence risk to families affected by ASD is inadequate.     

Discriminant Validity of the Sensory Profile in Australian Children with Autism Spectrum Disorder

Objective. The discriminant validity of the Sensory Profile was evaluated by comparing the sensory processing scores of Australian children, 5 to 8 years of age, diagnosed with autism spectrum disorder (ASD) to a control group of children with typical development matched for age and gender. Method. Twenty-six parents of children with ASD and 26 parents of typically developing children without ASD completed the Sensory Profile. Sensory Profile category, factor, and quadrant scores were compared using multivariate analysis to investigate if there were differences between the two groups. Results. The results indicated that the children with ASD had significantly lower sensory processing scores on all fourteen categories, eight out of nine factors, and all four quadrants of the Sensory Profile. Conclusion. The results also provide evidence of discriminant validity of Sensory Profile scores between children with ASD and children with typical development. In addition, the study findings indicate that the Sensory Profile can be used with confidence in cross-cultural contexts, such as Australia.     

Home-Based Video Modeling on Food Selectivity of Children With an Autism Spectrum Disorder

Aim: The purpose of this study was to evaluate the effects of video modeling – in the home setting – on food selectivity of three children with an autism spectrum disorder. Methods: Using a multiple baseline experimental design, the researcher implemented an in home video modeling intervention during dinner for all three participants. Intervention consisted of a video modeling condition, a video modeling plus reinforcement condition, and follow-up probes conducted for five months after the departure of the researcher. Results: The video modeling alone resulted in an increased acceptance of food by participants. When reinforcement was added to the video modeling, a higher level of food acceptance occurred for all three participants. Conclusion: The results suggest that video modeling was effective in increasing food acceptance, but food acceptance was higher for all three participants when reinforcement was added. Follow-up probes conducted for five months after the departure of the researcher suggest that the video modeling intervention was responsible for the increased food acceptance.     

Adult Panhypopituitarism Presenting as Idiopathic Growth Hormone Deficiency in Childhood

ABSTRACT. We report two patients who presented in childhood with isolated growth hormone deficiency and in whom progressive loss of anterior function led to panhypopituitarism in early adult life. The need for continued follow-up and reassessment of pituitary function in adult life is stressed in the light of the natural history of these patients.     

A Qualitative Study of Coping in Mothers of Children with an Autism Spectrum Disorder

ABSTRACT

A significant body of research exists that explores the stressors of raising a child with an autism spectrum disorder (ASD). There are fewer studies, however, that examine specific effective coping strategies of mothers of children with an ASD. This qualitative study explored mothers’ perceptions of effective coping strategies for their parenting stressors. In-depth interviews were conducted with 11 mothers to inquire about their personal coping methods. Interviews were coded and emergent themes identified that included coping strategies such as “me time,” planning, knowledge is power, sharing the load, lifting the restraints of labels, and recognizing the joys. The information from this study may benefit mothers of children with ASD and inform pediatric therapists providing services to children with ASD and their families.     

Exploring the Role of Physiotherapists in the Care of Children with Autism Spectrum Disorder

Aims: Children with autism spectrum disorder (ASD) are less likely to participate in physical activity than their age related peers, and it has been suggested that physiotherapists (PT) could potentially facilitate their participation. Currently, no research has examined PTs’ potential role in enhancing physical activity (PA) participation. The purpose of this qualitative study was to examine PTs experiences and perspectives of working with children with ASD, and to explore potential directions for PTs to potentially increase PA. Methods: Ten pediatric PTs in Canada were interviewed, and data were analyzed using thematic analysis. Results: Three themes were identified: the role of PT, perceived lack of expertise, confidence and training, and structural and systemic barriers. The accounts highlight the social and institutional complexity and constraints in PTs potential promotion of PA for children with ASD. Participants supported a primarily consultative role whereby PTs could educate and partner with parents, teachers, and community service providers to enhance gross motor development and individualize PA needs. Conclusions: These findings indicate how PTs might be involved in enhancing PA among children with ASD.