1. An SL. {{Parent Training Occupational Therapy Program for Parents of Children with Autism in Korea}}. {Occup Ther Int}. 2017; 2017: 4741634.
Attitudes and beliefs about parent participation in occupational therapy are shifting toward family-centered practice worldwide. However, adopting a family-centered approach in a society such as Korea, where a Confucian culture of hierarchical roles is reflected in a strong medical model, can prove to be very difficult. A parent training program was developed at the HOPE Center, a pediatric occupational therapy center, to bridge the gap between the traditional medical model and the ideal family-centered model. This study examined the effectiveness of the parent training and gauged parents’ perceptions and experiences of a more family-centered approach to therapy. Four parent-child dyads living with autism participated in five months of parent training at the HOPE center. The results on the Canadian Occupational Performance Measure showed that the parent training improved the occupational performance of both children and parents. Six open-ended questions were used to investigate parents’ perceptions and experiences of parent training. Two broad themes emerged: improved self-efficacy and the cultural reality of living with autism in Korea. This study demonstrates that building parent training into an occupational therapy program may optimize the effectiveness of any therapy and introduce a more family-centered approach to therapy while maintaining cultural integrity.
Lien vers le texte intégral (Open Access ou abonnement)
2. Andrade C. {{Antidepressant Exposure During Pregnancy and Risk of Autism in the Offspring, 2: Do the New Studies Add Anything New?}}. {J Clin Psychiatry}. 2017; 78(8): e1052-e6.
BACKGROUND: During the past year, at least 5 new studies, all observational in design, examined the risk of autism spectrum disorder (ASD) in children exposed to antidepressant medication in utero. These studies had not found inclusion in the many systematic reviews and meta-analyses that had also been published in the past year. METHODS: Noteworthy methods and findings of the new studies are summarized. One of these studies is examined in detail to help the reader understand methodological and conceptual issues that are critical in the field. Some general caveats in the interpretation of the literature are also discussed. RESULTS: In order to reduce the limitations associated with their observational design, the new studies used many innovations, including maternal controls with mental illness, propensity score-matched controls, preconception antidepressant exposure controls, sibling controls, paternal antidepressant user controls, and modeling for the presence of an unknown confound. Two studies found an association between maternal antidepressant use during pregnancy and the risk of ASD in the offspring; these associations remained statistically significant even after covariate adjustments. The other 3 studies found that the significant association between antidepressant exposure and ASD risk was lost after statistical adjustment; that preconception antidepressant exposure was also associated with increased risk of ASD; that siblings discordant for antidepressant exposure had similar ASD risk; and that paternal antidepressant use was also associated with increased risk. CONCLUSIONS: The new studies do not change the conclusions of the available meta-analyses. In fact, at least some of the new data strengthen the conclusion that antidepressant use during pregnancy is likely to be a marker of more severe illness and that inadequately measured, unmeasured, or unknown genetic, behavioral, and environmental confounds associated with more severe illness (rather than the antidepressant exposure by itself) may be responsible for the increased risk of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
3. Bestbier L, Williams TI. {{The Immediate Effects of Deep Pressure on Young People with Autism and Severe Intellectual Difficulties: Demonstrating Individual Differences}}. {Occup Ther Int}. 2017; 2017: 7534972.
Background: Deep pressure is widely used by occupational therapists for people with autism spectrum disorders. There is limited research evaluating deep pressure. Objective: To evaluate the immediate effects of deep pressure on young people with autism and severe intellectual disabilities. Methods: Mood and behaviour were rated for 13 pupils with ASD and severe ID before and after deep pressure sessions. Results: Sufficient data was available from 8 participants to be analysed using Tau-U, a nonparametric technique that allows for serial dependence in data. Six showed benefits statistically. Five of these showed benefits across all domains, and one showed benefits on three out of five domains. Relevance to Clinical Practice: Deep pressure appears to be of immediate benefit to this population with autism and severe ID, but the heterogeneity of response suggests that careful monitoring of response should be used and deep pressure discontinued when it is no longer of benefit. Limitations: This is an open label evaluation study using rating scales. Recommendations for Future Research: Future studies of the use of deep pressure should use physiological response measures, in addition to blinded raters for aspects of behaviours such as attitude to learning psychological health not captured physiologically.
Lien vers le texte intégral (Open Access ou abonnement)
4. Dufek JS, Eggleston JD, Harry JR, Hickman RA. {{A Comparative Evaluation of Gait between Children with Autism and Typically Developing Matched Controls}}. {Med Sci (Basel)}. 2017; 5(1).
Anecdotal reports suggest children with autism spectrum disorder (ASD) ambulate differently than peers with typical development (TD). Little empirical evidence supports these reports. Children with ASD exhibit delayed motor skills, and it is important to determine whether or not motor movement deficits exist during walking. The purpose of the study was to perform a comprehensive lower-extremity gait analysis between children (aged 5-12 years) with ASD and age- and gender-matched-samples with TD. Gait parameters were normalized to 101 data points and the gait cycle was divided into seven sub-phases. The Model Statistic procedure was used to test for statistical significance between matched-pairs throughout the entire gait cycle for each parameter. When collapsed across all participants, children with ASD exhibited large numbers of significant differences (p < 0.05) throughout the gait cycle in hip, knee, and ankle joint positions as well as vertical and anterior/posterior ground reaction forces. Children with ASD exhibited unique differences throughout the gait cycle, which supports current literature on the heterogeneity of the disorder. The present work supports recent findings that motor movement differences may be a core symptom of ASD. Thus, individuals may benefit from therapeutic movement interventions that follow precision medicine guidelines by accounting for individual characteristics, given the unique movement differences observed. Lien vers le texte intégral (Open Access ou abonnement)
5. Duker LIS, Henwood BF, Bluthenthal RN, Juhlin E, Polido JC, Cermak SA. {{Parents’ perceptions of dental care challenges in male children with autism spectrum disorder: An initial qualitative exploration}}. {Res Autism Spectr Disord}. 2017; 39: 63-72.
Background: Many children with autism spectrum disorders (ASD) experience barriers to oral care in the dental office setting. The purpose of this study was to provide an increased understanding of these challenges experienced during oral care in the dental office by children with ASD. Method: This study was part of a larger mixed methods design and builds on quantitative results from a survey of parents of children with ASD ages 2-18 in which parents reported difficulties with access to care, sensory processing, and uncooperative behaviors. For this study, we conducted two, three hour, focus groups of parents of male children with ASD age 5-18 years in order to explore the survey results in greater depth. Focus group transcripts were analyzed using a template coding approach based on the three domains of office-based oral care challenges identified in the first phase (survey). Results: Several related themes emerged including: (1) Access: « Difficult to find the right dentist », (2) Sensory sensitivities: « All the sensory devices just make him so uncomfortable », (3) Restraint: « It looked like they were torturing him », and (4) Drugs: « A mixed bag ». Conclusions: The qualitative findings from this study both confirmed our previous survey findings and expanded upon them. These findings can help professionals better understand the challenges experienced by children with ASD and their parents as well as help identify priorities for planning efforts to address the oral health-related needs of this population.
Lien vers le texte intégral (Open Access ou abonnement)
6. Gringras P, Nir T, Breddy J, Frydman-Marom A, Findling RL. {{Efficacy and Safety of Pediatric Prolonged-Release Melatonin for Insomnia in Children With Autism Spectrum Disorder}}. {J Am Acad Child Adolesc Psychiatry}. 2017; 56(11): 948-57 e4.
OBJECTIVE: To assess the efficacy and safety of novel pediatric-appropriate, prolonged-release melatonin minitablets (PedPRM) versus placebo for insomnia in children and adolescents with autism spectrum disorder (ASD), with or without attention-deficit/hyperactivity disorder (ADHD) comorbidity, and neurogenetic disorders (NGD). METHOD: A total of 125 children and adolescents (2-17.5 years of age; 96.8% ASD, 3.2% Smith-Magenis syndrome [SMS]) whose sleep failed to improve on behavioral intervention alone were randomized (1:1 ratio), double-blind, to receive PedPRM (2 mg escalated to 5 mg) or placebo for 13 weeks. Sleep measures included the validated caregivers’ Sleep and Nap Diary (SND) and Composite Sleep Disturbance Index (CSDI). The a priori primary endpoint was SND-reported total sleep time (TST) after 13 weeks of treatment. RESULTS: The study met the primary endpoint: after 13 weeks of double-blind treatment, participants slept on average 57.5 minutes longer at night with PedPRM compared to 9.14 minutes with placebo (adjusted mean treatment difference PedPRM-placebo -32.43 minutes; p = .034). Sleep latency (SL) decreased by 39.6 minutes on average with PedPRM and 12.5 minutes with placebo (adjusted mean treatment difference -25.30 minutes; p = .011) without causing earlier wakeup time. The rate of participants attaining clinically meaningful responses in TST and/or SL was significantly higher with PedPRM than with placebo (68.9% versus 39.3% respectively; p = .001) corresponding to a number needed to treat (NNT) of 3.38. Overall sleep disturbance (CSDI) tended to decrease. PedPRM was generally safe; somnolence was more commonly reported with PedPRM than placebo. CONCLUSION: PedPRM was efficacious and safe for treatment of insomnia in children and adolescents with ASD with/without ADHD and NGD. The acceptability of this pediatric formulation in a population who usually experience significant difficulties in swallowing was remarkably high. Clinical trial registration information-Efficacy and Safety of Circadin in the Treatment of Sleep Disturbances in Children With Neurodevelopment Disabilities; http://clinicaltrials.gov/; NCT01906866.
Lien vers le texte intégral (Open Access ou abonnement)
7. Hartley SL, Papp LM, Mihaila I, Bussanich PM, Goetz G, Hickey EJ. {{Couple Conflict in Parents of Children with versus without Autism: Self-Reported and Observed Findings}}. {J Child Fam Stud}. 2017; 26(8): 2152-65.
We compared the couple conflict of parents of children with autism spectrum disorder (ASD) to a comparison group of parents of children without disabilities using self-reported and observational measures. In total, 178 couples who had a child with ASD (aged 5-12 years) and 174 couples who had children without disabilities (aged 5-12 years), recruited from a Midwestern state in the United States, reported on couple conflict in everyday life and engaged in an observed couple conflict interaction. Parents of children with ASD reported more frequent, severe, and unresolved couple problems than the comparison group. Parents who had a child with ASD were observed to have less engaged, balanced, and cooperative couple conflict interactions, but demonstrated more positive affect and sensitivity towards one another, than parents in the comparison group. Group differences had small effect sizes. Findings have implications for marital therapy and relationship education programs.
Lien vers le texte intégral (Open Access ou abonnement)
8. Lessel D, Schob C, Kury S, Reinders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogne B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K, Brunner HG, Elpeleg O, Mercier S, Bezieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ. {{De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder}}. {Am J Hum Genet}. 2017; 101(5): 716-24.
DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. While four mutations are recurrent, two are unique with one affecting the codon of one recurrent mutation. All amino acid changes are located within highly conserved helicase motifs and were found to either impair ATPase activity or RNA recognition in different in vitro assays. Moreover, protein variants exhibit an increased propensity to trigger stress granule (SG) formation resulting in global translation inhibition. Thus, our findings highlight the prominent role of translation control in development and function of the central nervous system and also provide molecular insight into how DHX30 dysfunction might cause a neurodevelopmental disorder.
Lien vers le texte intégral (Open Access ou abonnement)
9. Magallon-Neri E, Vila D, Santiago K, Garcia P, Canino G. {{The Prevalence of Psychiatric Disorders and Mental Health Services Utilization by Parents and Relatives Living With Individuals With Autism Spectrum Disorders in Puerto Rico}}. {J Nerv Ment Dis}. 2017.
Knowledge about prevalence rates of psychiatric disorders and mental health services use among parents and relatives of persons with autism spectrum disorder (ASD) is limited, particularly when referring to epidemiologic samples. The current study is based on an island-wide probabilistic multistage cluster sample of adult individuals (N = 3062) living in Puerto Rico. Results showed a significantly higher rate of attention deficit hyperactivity disorder and serious mental illness in parents (n = 34) or relatives (n = 34) of ASD individuals, as compared with the Puerto Rico adult population as a whole. Although not definitive because of the small sample size, the fact that the rates of mental health utilization were similar to the population sample suggests a need for greater attention by health professionals attending children with ASD to the needs for mental health services of both parents and relatives of individuals with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
10. Messing A, Golden RN. {{Autism in Wisconsin-Is It Increasing, and What Can We Do About It?}}. {WMJ}. 2017; 116(1): 45-6.
11. Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lonnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM. {{Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia}}. {Am J Hum Genet}. 2017; 101(5): 856-65.
Approximately one in every 200 mammalian proteins is anchored to the cell membrane through a glycosylphosphatidylinositol (GPI) anchor. These proteins play important roles notably in neurological development and function. To date, more than 20 genes have been implicated in the biogenesis of GPI-anchored proteins. GPAA1 (glycosylphosphatidylinositol anchor attachment 1) is an essential component of the transamidase complex along with PIGK, PIGS, PIGT, and PIGU (phosphatidylinositol-glycan biosynthesis classes K, S, T, and U, respectively). This complex orchestrates the attachment of the GPI anchor to the C terminus of precursor proteins in the endoplasmic reticulum. Here, we report bi-allelic mutations in GPAA1 in ten individuals from five families. Using whole-exome sequencing, we identified two frameshift mutations (c.981_993del [p.Gln327Hisfs( *)102] and c.920delG [p.Gly307Alafs( *)11]), one intronic splicing mutation (c.1164+5C>T), and six missense mutations (c.152C>T [p.Ser51Leu], c.160_161delinsAA [p.Ala54Asn], c.527G>C [p.Trp176Ser], c.869T>C [p.Leu290Pro], c.872T>C [p.Leu291Pro], and c.1165G>C [p.Ala389Pro]). Most individuals presented with global developmental delay, hypotonia, early-onset seizures, cerebellar atrophy, and osteopenia. The splicing mutation was found to decrease GPAA1 mRNA. Moreover, flow-cytometry analysis of five available individual samples showed that several GPI-anchored proteins had decreased cell-surface abundance in leukocytes (FLAER, CD16, and CD59) or fibroblasts (CD73 and CD109). Transduction of fibroblasts with a lentivirus encoding the wild-type protein partially rescued the deficiency of GPI-anchored proteins. These findings highlight the role of the transamidase complex in the development and function of the cerebellum and the skeletal system.
Lien vers le texte intégral (Open Access ou abonnement)
12. Pathak M, Bennett A, Shui AM. {{Correlates of adaptive behavior profiles in a large cohort of children with autism: The autism speaks Autism Treatment Network registry data}}. {Autism}. 2017: 1362361317733113.
Children with autism spectrum disorder have deficits in adaptive functioning. This study examines the adaptive behavior, its association with cognitive ability, gender, age, and symptom severity in children with autism spectrum disorder. Using data from Autism Treatment Network registry, the adaptive behavior profiles were examined in 2538 school-aged children (between 5 and 17 years, mean: 8.8 years, standard deviation: 3.0) who had an overall intelligence quotient and Vineland Adaptive Behavior Scale scores available. The children were grouped according to their intelligence quotient (low intelligence quotient < 70; borderline intelligence quotient = 70-85; average intelligence quotient > 85), age (5-10 and 11-17 years), and gender for the analyses. Significantly lower Vineland Adaptive Behavior Scale scores were found in borderline and average intelligence quotient groups when compared to mean intelligence quotient, while an opposite pattern was seen in the low intelligence quotient group, with better adaptive behavior scores than mean intelligence quotient. Vineland Adaptive Behavior Scale standard scores were positively correlated with intelligence quotient and poorly associated with autism spectrum disorder severity. Younger children had significantly higher Vineland Adaptive Behavior Scale scores. Adjusted comparisons by gender were not significant. Adaptive behavior profiles in the intelligence quotient categories are discussed. This study confirms a positive relationship between adaptive behavior and intellectual function in autism and indicates that children with higher intelligence quotient and older age are specifically impaired, with lower adaptive behavior, highlighting the need for assessment and targeted intervention in these groups. Future directions for research are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
13. Posar A, Visconti P. {{Sensory abnormalities in children with autism spectrum disorder}}. {J Pediatr (Rio J)}. 2017.
OBJECTIVE: The clinical picture of children with autism spectrum disorder is characterized by deficits of social interaction and communication, as well as by repetitive interests and activities. Sensory abnormalities are a very frequent feature that often go unnoticed due to the communication difficulties of these patients. This narrative review summarizes the main features of sensory abnormalities and the respective implications for the interpretation of several signs and symptoms of autism spectrum disorder, and therefore for its management. SOURCES: A search was performed in PubMed (United States National Library of Medicine) about the sensory abnormalities in subjects (particularly children) with autism spectrum disorder. SUMMARY OF THE FINDINGS: Sensory symptoms are common and often disabling in children with autism spectrum disorder, but are not specific for autism, being a feature frequently described also in subjects with intellectual disability. Three main sensory patterns have been described in autism spectrum disorder: hypo-responsiveness, hyper-responsiveness, and sensory seeking; to these, some authors have added a fourth pattern: enhanced perception. Sensory abnormalities may negatively impact the life of these individuals and their families. An impairment not only of unisensory modalities but also of multisensory integration is hypothesized. CONCLUSIONS: Atypical sensory reactivity of subjects with autism spectrum disorder may be the key to understand many of their abnormal behaviors, and thus it is a relevant aspect to be taken into account in their daily management in all the contexts in which they live. A formal evaluation of sensory function should be always performed in these children.
Lien vers le texte intégral (Open Access ou abonnement)
14. Sudhof TC. {{Synaptic Neurexin Complexes: A Molecular Code for the Logic of Neural Circuits}}. {Cell}. 2017; 171(4): 745-69.
Synapses are specialized junctions between neurons in brain that transmit and compute information, thereby connecting neurons into millions of overlapping and interdigitated neural circuits. Here, we posit that the establishment, properties, and dynamics of synapses are governed by a molecular logic that is controlled by diverse trans-synaptic signaling molecules. Neurexins, expressed in thousands of alternatively spliced isoforms, are central components of this dynamic code. Presynaptic neurexins regulate synapse properties via differential binding to multifarious postsynaptic ligands, such as neuroligins, cerebellin/GluD complexes, and latrophilins, thereby shaping the input/output relations of their resident neural circuits. Mutations in genes encoding neurexins and their ligands are associated with diverse neuropsychiatric disorders, especially schizophrenia, autism, and Tourette syndrome. Thus, neurexins nucleate an overall trans-synaptic signaling network that controls synapse properties, which thereby determines the precise responses of synapses to spike patterns in a neuron and circuit and which is vulnerable to impairments in neuropsychiatric disorders.
Lien vers le texte intégral (Open Access ou abonnement)
15. Thiffault I, Zuccarelli B, Welsh H, Yuan X, Farrow E, Zellmer L, Miller N, Soden S, Abdelmoity A, Brodsky RA, Saunders C. {{Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease}}. {BMC Med Genet}. 2017; 18(1): 124.
BACKGROUND: Defects in the human glycosylphosphatidylinositol anchor biosynthetic pathway are associated with inherited glycosylphosphatidylinositol (GPI)-deficiencies characterized by a broad range of clinical phenotypes including multiple congenital anomalies, dysmorphic faces, developmental delay, hypotonia, and epilepsy. Biallelic variants in PIGN, encoding phosphatidylinositol-glycan biosynthesis class N have been recently associated with multiple congenital anomalies hypotonia seizure syndrome. CASE PRESENTATION: Our patient is a 2 year old male with hypotonia, global developmental delay, and focal epilepsy. Trio whole-exome sequencing revealed heterozygous variants in PIGN, c.181G > T (p.Glu61*) and c.284G > A (p.Arg95Gln). Analysis of FLAER and anti-CD59 by flow-cytometry demonstrated a shift in this patient’s granulocytes, confirming a glycosylphosphatidylinositol-biosynthesis defect, consistent with PIGN-related disease. CONCLUSIONS: To date, a total of 18 patients have been reported, all but 2 of whom have congenital anomalies and/or obvious dysmorphic features. Our patient has no significant dysmorphic features or multiple congenital anomalies, which is consistent with recent reports linking non-truncating variants with a milder phenotype, highlighting the importance of functional studies in interpreting sequence variants.
Lien vers le texte intégral (Open Access ou abonnement)
16. Weissman-Miller D, Miller RJ, Shotwell MP. {{Translational Research for Occupational Therapy: Using SPRE in Hippotherapy for Children with Developmental Disabilities}}. {Occup Ther Int}. 2017; 2017: 2305402.
Translational research is redefined in this paper using a combination of methods in statistics and data science to enhance the understanding of outcomes and practice in occupational therapy. These new methods are applied, using larger data and smaller single-subject data, to a study in hippotherapy for children with developmental disabilities (DD). The Centers for Disease Control and Prevention estimates DD affects nearly 10 million children, aged 2-19, where diagnoses may be comorbid. Hippotherapy is defined here as a treatment strategy in occupational therapy using equine movement to achieve functional outcomes. Semiparametric ratio estimator (SPRE), a single-subject statistical and small data science model, is used to derive a « change point » indicating where the participant adapts to treatment, from which predictions are made. Data analyzed here is from an institutional review board approved pilot study using the Hippotherapy Evaluation and Assessment Tool measure, where outcomes are given separately for each of four measured domains and the total scores of each participant. Analysis with SPRE, using statistical methods to predict a « change point » and data science graphical interpretations of data, shows the translational comparisons between results from larger mean values and the very different results from smaller values for each HEAT domain in terms of relationships and statistical probabilities.
