1. Baker EK, Godler DE, Bui M, Hickerton C, Rogers C, Field M, Amor DJ, Bretherton L. {{Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes}}. {J Neurodev Disord}. 2018; 10(1): 24.
BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. METHODS: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region. RESULTS: Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p = .0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain. CONCLUSIONS: PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS.
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2. Davidovitch M, Shrem M, Golovaty N, Assaf N, Koren G. {{The role of cellular phone usage by parents in the increase in ASD occurrence: A hypothetical framework}}. {Med Hypotheses}. 2018; 117: 33-6.
Over the last few decades there has been a significant worldwide increase in the diagnosis of autism spectrum disorder (ASD), the causes of which are unknown. The biggest environmental change over this decade has been the massive introduction of cellphones. Eye contact is fundamental for infants’ development, and parent-infant eye contact is impaired when parents are pre occupied by cellphones. We speculate that children with a pre-existing vulnerability to autism may be adversely affected by this pattern of parental behavior. As a first step toward exploring our hypothesis, we wished to document the extent of cellular phone usage by parents during their child’s diagnostic developmental assessment. We speculated that, if under these stressful circumstances of awaiting their child’s crucial assessment the parent is not fully engaged with his/her child, then in real daily activities this phenomenon is likely much more pronounced. Of 111 developmental sessions, 73 parents (66%) engaged their phone during the assessment, between 1 and 20 times. Of 62 observations in the waiting room, 52 (83.9%) parents used their phone, 1-19 times. Nine parents (17.3%) used their phone for 10-50% of the time and 16 (30.8%) for more than 50% of the time in the waiting room. In our analysis, the rate of language/motor delays was twice more common among children of cell phone users than among non users (p=0.04) as an initial support of our hypothesis. Parents’ focus and full attention toward their cellphones can adversely affect the development of joint attention in infants and may contribute to the development of autistic features among a vulnerable subgroup of infants. While more research is needed to prove causation, it would be reasonable to advise parents to decrease to minimum the usage of cellphones when interacting with their young children.
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3. Field SS. {{Factors Affecting Vaccination in Children and Their Siblings After Autism Spectrum Disorder Diagnosis}}. {JAMA Pediatr}. 2018.
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4. Guo Q, Yin X, Qiao M, Jia Y, Chen D, Shao J, Lebaron TW, Gao Y, Shi H, Jia B. {{Hydrogen-Rich Water Ameliorates Autistic-Like Behavioral Abnormalities in Valproic Acid-Treated Adolescent Mice Offspring}}. {Frontiers in behavioral neuroscience}. 2018; 12: 170.
Due to its anti-inflammatory and anti-oxidative effects, recent research has demonstrated that molecular hydrogen can serve as a new medical approach for depression, anxiety and traumatic brain injury. However, its potential effects on neurodevelopmental diseases, such as autism are still elusive. The present study aims to investigate the potential effects of hydrogen-rich water (HRW) administration on valproic acid (VPA)-induced autistic-like behavioral deficits, and the associated underlying mechanism in adolescent mice offspring. Pregnant ICR mice were randomly divided into five groups (n = 6). One group was injected with saline (NAV group) and provided hydrogen-free water. The other four groups were injected with VPA (600 mg/kg, intraperitoneally, i.p.) on pregnant day (PND) 12.5. One group was provided with hydrogen-free water (VEH group) and the other three groups were provided HRW at different segments, postnatal day 1 (PND 1) to PND 21 (PHV group), PND 13 to PND 21 (PVS group) or from PND 13 to postnatal day 42 (PVL group). Behavioral tests, including open field, novelty suppressed feeding (NSF), hot plate, social interaction (SI) and contextual fear memory tests were conducted between postnatal day 35-42. We found that HRW administration significantly reversed the autistic-like behaviors induced by maternal VPA exposure in the adolescent offspring of both male and female adolescent offspring. Furthermore, HRW administration significantly reversed the alternation of serum levels of interleukin 6 (IL-6) and tumor necrosis factor-alpha (TNF-alpha), but without any effects on the BDNF levels in maternal VPA-exposed mice offspring. These data suggest the need for additional research on HRW as a potential preventive strategy for autism and related disorders. Lay Summary: Maternal VPA injection induces autistic-like behavioral deficits in adolescent mice offspring. HRW administration ameliorates autistic-like behavioral deficits. HRW administration reverses the alternation of serum levels of IL-6 and TNF-alpha induced by VPA.
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5. Hillard PJA. {{Contraception for Women With Intellectual and Developmental Disabilities: Reproductive Justice}}. {Obstetrics and gynecology}. 2018.
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6. Hsieh MY, Lynch G, Madison C. {{Intervention Techniques Used With Autism Spectrum Disorder by Speech-Language Pathologists in the United States and Taiwan: A Descriptive Analysis of Practice in Clinical Settings}}. {American journal of speech-language pathology}. 2018; 27(3): 1091-104.
Purpose: This study examined intervention techniques used with children with autism spectrum disorder (ASD) by speech-language pathologists (SLPs) in the United States and Taiwan working in clinic/hospital settings. The research questions addressed intervention techniques used with children with ASD, intervention techniques used with different age groups (under and above 8 years old), and training received before using the intervention techniques. Method: The survey was distributed through the American Speech-Language-Hearing Association to selected SLPs across the United States. In Taiwan, the survey (Chinese version) was distributed through the Taiwan Speech-Language Pathologist Union, 2018, to certified SLPs. Results: Results revealed that SLPs in the United States and Taiwan used 4 common intervention techniques: Social Skill Training, Augmentative and Alternative Communication, Picture Exchange Communication System, and Social Stories. Taiwanese SLPs reported SLP preparation program training across these common intervention strategies. In the United States, SLPs reported training via SLP preparation programs, peer therapists, and self-taught. Conclusions: Most SLPs reported using established or emerging evidence-based practices as defined by the National Professional Development Center (2014) and the National Standards Report (2015). Future research should address comparison of SLP preparation programs to examine the impact of preprofessional training on use of evidence-based practices to treat ASD.
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7. Issarraras A, Matson JL, Matheis M, Burns CO. {{Differences in Developmental Concerns of Young Children with Autism Spectrum Disorder Across Racial/Ethnic Groups}}. {Dev Neurorehabil}. 2018: 1-6.
PURPOSE: Parents/caregivers of children with autism spectrum disorder (ASD) have varying types of initial concerns regarding their child’s development, which may be culturally bound to parents’ perceptions of their child’s development. This study investigated differences in the types of initial developmental concerns reported by parents or caregivers of different racial/ethnic groups with children in an early intervention program. METHOD: This study examined the frequency of endorsement of different types of concerns in African American, Caucasian, and Hispanic families. RESULTS: No significant differences between racial/ethnic groups were found in the endorsement of concerns related to communication, language/speech, motor, problem behavior, sensory, feeding, prematurity, attention, adaptive functioning, and medical conditions. Racial/ethnic groups differed significantly in their endorsement for social concerns. CONCLUSION: Racial/ethnic group differences were confirmed regarding initial developmental concerns related to social behavior, which may be due to cultural beliefs. The implications of these findings on early identification are discussed.
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8. Kumazaki H, Okamoto M, Yoshimura Y, Ikeda T, Hasegawa C, Saito DN, Iwanaga R, Tomiyama S, An KM, Minabe Y, Kikuchi M. {{Brief Report: Odour Awareness in Young Children with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2018.
The elucidation of odour awareness in children with autism spectrum disorders (ASD) is important. We compared the odour awareness of young children with ASD with those of typical development (TD) children using the Children’s Olfactory Behavior in Everyday Life (COBEL) questionnaire, which is a self-report measure that mainly assesses odour awareness. Forty-five young boys (aged 5-6 years), including 20 children with ASD and 25 TD children, participated in this study. The total COBEL score of the young children with ASD was lower than that of the TD children (p < 0.01). Moreover, the total COBEL score was significantly correlated with the total VABS II score (p < 0.05). Our results improve understanding of the odour awareness in children with ASD. Lien vers le texte intégral (Open Access ou abonnement)
9. Le Thi Thanh H, Do Thi Diem T, Duy CV, Thanh HLT, Phuong HBT, Thanh LN. {{Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome}}. {BMC Med Genet}. 2018; 19(1): 137.
BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder in children characterized by a normal neurodevelopmental process in the first 6-18 months followed by a period of motor and vocal deterioration with stereotypic hand movements. Incidence of RTT is mostly due to de novo mutation in the MECP2 gene (methyl-CpG-binding protein 2). METHODS: The study assessed 27 female patients presented with classical RTT phenotype age range from 18 months to 48 months. Specialist carried out the clinical evaluation and diagnosis according to RTT diagnosis criteria. Blood samples from patients were then collected for genomic DNA extraction. We next performed MECP2 gene amplification and sequencing of the whole coding region to screen for mutations. RESULT: MECP2 mutation was found in 20 patients (74%) including: 2 missense, 4 nonsense, 6 frameshift and 2 deletion mutation. The study identified 14 pathogenic mutations which we found 4 mutation, to our knowledge and extensive search, not priory reported in any mutation database or publication: c.1384-1385DelGT, c.1205insT, c.717delC and c.1132_1207del77. High percentage of C > T (70%) in CpG sites mutation was found. CONCLUSION: Our result reveals a high percentage of C > T mutation in CpG hot spot, which is more prone to modification and more likely to be detected in RTT as a disorder is strictly due to de novo mutations. The study is the first to identify the mutation spectrum of MECP2 gene in Vietnamese patients and also an important step toward better diagnosis and care for RTT patients in Vietnam.
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10. Qin S, King S, Broder-Fingert S. {{Factors Affecting Vaccination in Children and Their Siblings After Autism Spectrum Disorder Diagnosis}}. {JAMA Pediatr}. 2018.
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11. Sandbank M, Cascio C. {{Using a motion-tracking device to facilitate motion control in children with ASD for neuroimaging}}. {Dev Neurorehabil}. 2018: 1-11.
PURPOSE: Conducting neurological scans of children with disabilities is difficult because participants exhibit excessive motion. We examined whether a motion-tracking system that combined real-time visual feedback with positive reinforcement and shaping could facilitate motion control in two children with autism spectrum disorder. METHODS: Using a modified changing criterion design, we evaluated whether the intervention could facilitate decreases in the participants’ range of motion and increases in duration of motion control in a mock scanner. RESULTS: Participants restricted head motion to increasingly smaller distance windows for 2 min. Once participants limited head displacement to 3 mm for 2 min, duration of motion control increased to a range of 7-20 min. Summary-level data from the actual scan suggests increases in motion control generalized outside of the intervention context. CONCLUSION: This study adds to the limited research on the use of behavioral interventions to increase motion control for neuroimaging in children with disabilities.
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12. Schwartz J, Huntington N, Toomey M, Laverdiere M, Bevans K, Blum N, Bridgemohan C. {{Measuring the involvement in family life of children with autism spectrum disorder: A DBPNet study}}. {Res Dev Disabil}. 2018; 83: 18-27.
BACKGROUND: Children with Autism Spectrum Disorder (ASD) have social and communication deficits that impair their involvement in family life. No measures of child involvement in the family have been validated for the ASD population. AIM: To evaluate the validity of a measure of Family Involvement (FI) of children ages 5-12 with ASD. METHOD: Parents of children ages 5-12 with ASD (n = 114) completed FI items from the PROMIS(R) pediatric Family Relationships item bank in computerized adaptive testing (CAT) format, as well as measures of ASD symptom burden, parenting stress, and parental depression. Medical record review provided child intelligence or developmental quotient. A reference sample (n = 236) closely matching the ASD sample in age and gender was created from the national standardization sample, and underwent a simulated CAT. RESULTS: The CAT precisely and efficiently measured parent-reported FI of children with ASD. Average FI scores were lower among children with ASD (M = 46.3, SD = 7.1) than children in the reference sample (M = 52.5, SD = 9.1). A « dose response » decrease in FI was observed as ASD severity increased. Increased parenting stress was associated with lower FI. No relationship between FI and child IQ was found. CONCLUSION: The FI items captured FI among children ages 5-12 with ASD with acceptable precision. Reduced FI among children with ASD, particularly those with higher symptom severity, suggests validity of the items in this population.
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13. Takahashi H, Nakamura T, Kim J, Kikuchi H, Nakahachi T, Ishitobi M, Ebishima K, Yoshiuchi K, Ando T, Stickley A, Yamamoto Y, Kamio Y. {{Acoustic Hyper-Reactivity and Negatively Skewed Locomotor Activity in Children With Autism Spectrum Disorders: An Exploratory Study}}. {Frontiers in psychiatry}. 2018; 9: 355.
Investigation of objective and quantitative behavioral phenotypes along with neurobiological endophenotypes might lead to increased knowledge of the mechanisms that underlie autism spectrum disorders (ASD). Here, we investigated the association between locomotor dynamics and characteristics of the acoustic startle response (ASR) and its modulation in ASD (n = 14) and typically developing (TD, n = 13) children. The ASR was recorded in response to acoustic stimuli in increments of 10 dB (65-105 dB SPL). We calculated the average ASR magnitude for each stimulus intensity and peak-ASR latency. Locomotor activity was continuously measured with a watch-type actigraph. We examined statistics of locomotor activity, such as mean activity levels and the skewness of activity. Children with ASD had a significantly greater ASR magnitude in response to a weak acoustic stimulus, which reflects acoustic hyper-reactivity. The skewness of all-day activity was significantly more negative in children with ASD than those with TD. Skewness of daytime activity was also more negative, although only of borderline statistical significance. For all children, the higher mean and more negatively skewed daytime activity, reflecting hyperactivity that was associated with sporadic large daytime « troughs, » was significantly correlated with acoustic hyper-reactivity. The more negatively skewed locomotor activity occurring in the daytime was also associated with impaired sensorimotor gating, examined as prepulse inhibition at a prepulse intensity of 70 dB. This comprehensive investigation of locomotor dynamics and the ASR extends our understanding of the neurophysiology that underlies ASD.
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14. Wu J, Zhang J, Mitra M, Parish SL, Minama Reddy GK. {{Provision of Moderately and Highly Effective Reversible Contraception to Insured Women With Intellectual and Developmental Disabilities}}. {Obstetrics and gynecology}. 2018.
OBJECTIVE: To estimate provision of moderately and highly effective reversible contraceptives to women with intellectual and developmental disabilities. METHODS: We used data from the Massachusetts All-Payer Claims Database to identify women aged 15-44 years with and without intellectual and developmental disabilities who were continuously enrolled in a private commercial insurance plan, Medicaid, or Medicare in 2012. We calculated the percentage of women aged 15-44 years who were not medically or surgically sterile and were provided 1) highly effective, long-acting reversible contraception (LARC, the intrauterine device or subdermal implant); or 2) prescriptions for moderately effective methods (pill, patch, ring, shot, or diaphragm). Logistic regression models estimated the odds of LARC and moderately effective method provision by disability status, adjusted for age, income, and Medicaid receipt. RESULTS: Among 915,561 women who were not medically or surgically sterile, 13,059 women (1.4%) had at least one intellectual and developmental disability. Women with intellectual and developmental disabilities were less likely to be provided LARC (2.1% vs 4.2%, P<.001, adjusted odds ratio [OR] 0.43, 95% CI 0.38-0.48, P<.001) and moderately effective methods (21.1% vs 29.9%, P<.001, adjusted OR 0.68, 95% CI 0.65-0.71, P<.001) than women without intellectual and developmental disabilities. The one exception was the progestin shot, which was provided more often to women with intellectual and developmental disabilities than women without these disabilities (14.7% vs 4.3%, P<.001). Among a subset of women who only received moderately effective methods or LARC (n=310,344), women with intellectual and developmental disability had lower odds of receiving LARC than moderately effective methods (adjusted OR 0.59, 95% CI 0.52-0.67). CONCLUSION: The study findings raise concerns that the provision of LARC and moderately effective methods differs based on the presence of intellectual and developmental disabilities. Greater understanding is needed regarding factors that underlie lower provision of LARC in comparison with moderately effective methods, especially the progestin shot, among women with intellectual and developmental disabilities. Lien vers le texte intégral (Open Access ou abonnement)
15. Wynn CJ, Borrie SA, Sellers TP. {{Speech Rate Entrainment in Children and Adults With and Without Autism Spectrum Disorder}}. {American journal of speech-language pathology}. 2018; 27(3): 965-74.
Purpose: Conversational entrainment, a phenomenon whereby people modify their behaviors to match their communication partner, has been evidenced as critical to successful conversation. It is plausible that deficits in entrainment contribute to the conversational breakdowns and social difficulties exhibited by people with autism spectrum disorder (ASD). This study examined speech rate entrainment in children and adult populations with and without ASD. Method: Sixty participants including typically developing children, children with ASD, typically developed adults, and adults with ASD participated in a quasi-conversational paradigm with a pseudoconfederate. The confederate’s speech rate was digitally manipulated to create slow and fast speech rate conditions. Results: Typically developed adults entrained their speech rate in the quasi-conversational paradigm, using a faster rate during the fast speech rate conditions and a slower rate during the slow speech rate conditions. This entrainment pattern was not evident in adults with ASD or in children populations. Conclusion: Findings suggest that speech rate entrainment is a developmentally acquired skill and offers preliminary evidence of speech rate entrainment deficits in adults with ASD. Impairments in this area may contribute to the conversational breakdowns and social difficulties experienced by this population. Future work is needed to advance this area of inquiry.
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16. Zerbo O, Klein NP. {{Factors Affecting Vaccination in Children and Their Siblings After Autism Spectrum Disorder Diagnosis-Reply}}. {JAMA Pediatr}. 2018.
