1. Burgoyne L, Dowling L, Fitzgerald A, Connolly M, J PB, Perry IJ. {{Parents’ perspectives on the value of assistance dogs for children with autism spectrum disorder: a cross-sectional study}}. {BMJ Open};2014;4(6):e004786.
OBJECTIVE: While there is an emerging literature on the usefulness of assistance dogs for children with autism spectrum disorder (ASD), there is a dearth of quantitative data on the value of assistance dog interventions for the family unit and family functioning. Using previously validated scales and scales developed specifically for this study, we measured parents’/guardians’ perceptions of how having an assistance dog affects: (1) child safety from environmental dangers, (2) public reception of ASD and (3) levels of caregiver strain and sense of competence. We also obtained open-ended response data from parents/guardians on benefits and constraints of having an assistance dog. SETTING: This study was based in the primary care setting, within the context of a specific accredited assistance dog centre in Ireland. PARTICIPANTS: A total of 134 parents/guardians with an assistance dog, and 87 parents of children on the waiting list were surveyed. PRIMARY AND SECONDARY OUTCOME MEASURES: The primary outcome measures were scores on environmental hazards and public reception scales. The secondary outcome measures were scores on caregiver strain and competence scales. RESULTS: Parents/guardians of children who have ASD and an assistance dog rate their child as significantly safer from environmental dangers (p<0.001), perceive that the public act more respectfully and responsibly towards their child (p<0.001) and feel more competent about managing their child (p=0.023) compared with parents on the waiting list. There was a concentration of positive feeling towards assistance dog interventions with particular focus on safety and comfort for children, and a sense of freedom from family restrictions associated with ASD. The amount of dedication and commitment required to care for a dog were viewed as the primary constraints. CONCLUSIONS: Our findings indicate that parents perceive that assistance dog interventions can be a valuable intervention for families with children who have ASD.
Lien vers le texte intégral (Open Access ou abonnement)
2. Hubbard KL, Anderson SE, Curtin C, Must A, Bandini LG. {{A Comparison of Food Refusal Related to Characteristics of Food in Children with Autism Spectrum Disorder and Typically Developing Children}}. {J Acad Nutr Diet};2014 (Jun 11)
Parents of children with autism spectrum disorder (ASD) frequently report child food refusal based on characteristics of food. Our study sought to determine whether parent report of food refusal based on the characteristics of food was greater in children with ASD than in typically developing children, associated with a greater percentage of foods refused of those offered, and associated with fruit and vegetable intake. A modified food frequency questionnaire was used to determine overall food refusal as well as fruit and vegetable intake. Parent-reported food refusal related to characteristics of food (eg, texture/consistency, temperature, brand, color, shape, taste/smell, foods mixed together, or foods touching other foods) was compared between 53 children with ASD and 58 typically developing children aged 3 to 11 years in the Children’s Activity and Meal Patterns Study (2007-2008). Children with ASD were significantly more likely to refuse foods based on texture/consistency (77.4% vs 36.2%), taste/smell (49.1% vs 5.2%), mixtures (45.3% vs 25.9%), brand (15.1% vs 1.7%), and shape (11.3% vs 1.7%). No differences between groups were found for food refusal based on temperature, foods touching other foods, or color. Irrespective of ASD status, the percentage of foods refused of those offered was associated with parent reports of food refusal based on all characteristics examined, except temperature. Food refusal based on color was inversely associated with vegetable consumption in both groups. Routine screening for food refusal among children with ASD is warranted to prevent dietary inadequacies that may be associated with selective eating habits. Future research is needed to develop effective and practical feeding approaches for children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
3. Kocovska E, Andorsdottir G, Weihe P, Halling J, Fernell E, Stora T, Biskupsto R, Gillberg IC, Shea R, Billstedt E, Bourgeron T, Minnis H, Gillberg C. {{Vitamin D in the General Population of Young Adults with Autism in the Faroe Islands}}. {J Autism Dev Disord};2014 (Jun 14)
Vitamin D deficiency has been proposed as a possible risk factor for developing autism spectrum disorder (ASD). 25-Hydroxyvitamin D3 (25(OH)D3) levels were examined in a cross-sectional population-based study in the Faroe Islands. The case group consisting of a total population cohort of 40 individuals with ASD (aged 15-24 years) had significantly lower 25(OH)D3 than their 62 typically-developing siblings and their 77 parents, and also significantly lower than 40 healthy age and gender matched comparisons. There was a trend for males having lower 25(OH)D3 than females. Effects of age, month/season of birth, IQ, various subcategories of ASD and Autism Diagnostic Observation Schedule score were also investigated, however, no association was found. The very low 25(OH)D3 in the ASD group suggests some underlying pathogenic mechanism.
Lien vers le texte intégral (Open Access ou abonnement)
4. Logan SL, Carpenter L, Leslie RS, Hunt KS, Garrett-Mayer E, Charles J, Nicholas JS. {{Rates and Predictors of Adherence to Psychotropic Medications in Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2014 (Jun 15)
Medication adherence in children is poor, particularly among those with chronic or mental health disorders. However, adherence has not been fully assessed in autism spectrum disorders (ASDs). The validated proportion of days covered method was used to quantify adherence to psychotropic medication in Medicaid-eligible children who met diagnostic criteria for ASD between 2000 and 2008 (N = 628). Among children prescribed attention deficit hyperactivity disorder (ADHD) medications, antidepressants, or antipsychotics, 44, 40 and 52 % were adherent respectively. Aggressive behaviors and abnormalities in eating, drinking, and/or sleeping, co-occurring ADHD, and the Medication Regimen Complexity Index were the most significant predictors of adherence rather than demographics or core deficits of ASD. Identifying barriers to adherence in ASD may ultimately lead to improved treatment outcomes.
Lien vers le texte intégral (Open Access ou abonnement)
5. Ludwig AL, Espinal GM, Pretto DI, Jamal AL, Arque G, Tassone F, Berman RF, Hagerman PJ. {{CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size}}. {Hum Mol Genet};2014 (Jun 15);23(12):3228-3238.
Large expansions of a CGG-repeat element (>200 repeats; full mutation) in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrome (FXS), the leading single-gene form of intellectual disability and of autism spectrum disorder. Smaller expansions (55-200 CGG repeats; premutation) result in the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS). Whereas FXS is caused by gene silencing and insufficient FMR1 protein (FMRP), FXTAS is thought to be caused by ‘toxicity’ of expanded-CGG-repeat mRNA. However, as FMRP expression levels decrease with increasing CGG-repeat length, lowered protein may contribute to premutation-associated clinical involvement. To address this issue, we measured brain Fmr1 mRNA and FMRP levels as a function of CGG-repeat length in a congenic (CGG-repeat knock-in) mouse model using 57 wild-type and 97 expanded-CGG-repeat mice carrying up to approximately 250 CGG repeats. While Fmr1 message levels increased with repeat length, FMRP levels trended downward over the same range, subject to significant inter-subject variation. Human comparisons of protein levels in the frontal cortex of 7 normal and 17 FXTAS individuals revealed that the mild FMRP decrease in mice mirrored the more limited data for FMRP expression in the human samples. In addition, FMRP expression levels varied in a subset of mice across the cerebellum, frontal cortex, and hippocampus, as well as at different ages. These results provide a foundation for understanding both the CGG-repeat-dependence of FMRP expression and for interpreting clinical phenotypes in premutation carriers in terms of the balance between elevated mRNA and lowered FMRP expression levels.
Lien vers le texte intégral (Open Access ou abonnement)
6. Wang Y, Sakano H, Beebe K, Brown MR, de Laat R, Bothwell M, Kulesza RJ, Jr., Rubel EW. {{Intense and specialized dendritic localization of the fragile X mental retardation protein in binaural brainstem neurons: a comparative study in the alligator, chicken, gerbil, and human}}. {J Comp Neurol};2014 (Jun 15);522(9):2107-2128.
Neuronal dendrites are structurally and functionally dynamic in response to changes in afferent activity. The fragile X mental retardation protein (FMRP) is an mRNA binding protein that regulates activity-dependent protein synthesis and morphological dynamics of dendrites. Loss and abnormal expression of FMRP occur in fragile X syndrome (FXS) and some forms of autism spectrum disorders. To provide further understanding of how FMRP signaling regulates dendritic dynamics, we examined dendritic expression and localization of FMRP in the reptilian and avian nucleus laminaris (NL) and its mammalian analogue, the medial superior olive (MSO), in rodents and humans. NL/MSO neurons are specialized for temporal processing of low-frequency sounds for binaural hearing, which is impaired in FXS. Protein BLAST analyses first demonstrate that the FMRP amino acid sequences in the alligator and chicken are highly similar to human FMRP with identical mRNA-binding and phosphorylation sites, suggesting that FMRP functions similarly across vertebrates. Immunocytochemistry further reveals that NL/MSO neurons have very high levels of dendritic FMRP in low-frequency hearing vertebrates including alligator, chicken, gerbil, and human. Remarkably, dendritic FMRP in NL/MSO neurons often accumulates at branch points and enlarged distal tips, loci known to be critical for branch-specific dendritic arbor dynamics. These observations support an important role for FMRP in regulating dendritic properties of binaural neurons that are essential for low-frequency sound localization and auditory scene segregation, and support the relevance of studying this regulation in nonhuman vertebrates that use low frequencies in order to further understand human auditory processing disorders.
