Comparing the impact of the first and second wave of COVID-19 lockdown on Slovak families with typically developing children and children with autism spectrum disorder

The aim of this research was to compare the mental health of families with children diagnosed with autism spectrum disorder or typically developing children, during the first and the second wave of COVID-19 outbreak in Slovakia. The study is mainly focused on the prevalence of depression, anxiety, and stress among the parents and maladaptive behavior or sleep disturbances of their children. Our research sample consisted of 332 caregivers, 155 of which have children with autism spectrum disorder; 179 surveyed during the first wave and 153 during the second wave. Extensive online parent questionnaire was created, including demographic and specific topic–related questions; Depression, Anxiety, and Stress Scale–42 questionnaire; and two subscales of Vineland Adaptive Behavior Scales—internalizing and externalizing maladaptive behavior. During the first wave, high levels of anxiety were found in parents of autism spectrum disorder children. During the second wave, all parents experienced increased levels of anxiety, stress, and depression, but especially severe for parents of children with autism spectrum disorder. Internalizing maladaptive behavior of children with autism spectrum disorder grew significantly between the waves. Parental depression, anxiety, and stress positively correlated with maladaptive behavior in both autism spectrum disorder and neurotypical children, suggesting a need for therapy options for whole families. Lay abstract A global pandemic caused by a new coronavirus (severe acute respiratory syndrome coronavirus 2) affected everyday lives of all people, including individuals with special needs, such as autism spectrum disorder. The aim of this research was to compare the mental health of families with children with autism spectrum disorder to families with typically developing children, and between the first and the second wave of COVID-19 outbreak in Slovakia. This mainly included symptoms of depression, anxiety, and stress of parents and problem behavior or sleeping difficulties of their children. The research sample consisted of 332 parents (155 of which have children with autism spectrum disorder), 179 surveyed during the first wave and 153 during the second wave. Online parent questionnaire was created, including demographic and specific topic questions, Depression Anxiety and Stress Scale–42 questionnaire, and internalizing and externalizing maladaptive behavior subscales from Vineland Adaptive Behavior Scales. Our results show that during the first wave, parents of autism spectrum disorder children suffered high levels of anxiety. During the second wave, both groups of parents suffered increased anxiety, stress, and depression, but especially severe for parents of children with autism spectrum disorder. Internalizing maladaptive behavior of autistic children grew significantly between the waves. Parental depression, anxiety, and stress were interconnected with maladaptive behavior of both autism spectrum disorder and typically developing children, suggesting the importance of the therapy options for whole families.

A Mobile Game Platform for Improving Social Communication in Children with Autism: A Feasibility Study

Background Many children with autism cannot receive timely in-person diagnosis and therapy, especially in situations where access is limited by geography, socioeconomics, or global health concerns such as the current COVD-19 pandemic. Mobile solutions that work outside of traditional clinical environments can safeguard against gaps in access to quality care. Objective The aim of the study is to examine the engagement level and therapeutic feasibility of a mobile game platform for children with autism. Methods We designed a mobile application, GuessWhat, which, in its current form, delivers game-based therapy to children aged 3 to 12 in home settings through a smartphone. The phone, held by a caregiver on their forehead, displays one of a range of appropriate and therapeutically relevant prompts (e.g., a surprised face) that the child must recognize and mimic sufficiently to allow the caregiver to guess what is being imitated and proceed to the next prompt. Each game runs for 90 seconds to create a robust social exchange between the child and the caregiver. Results We examined the therapeutic feasibility of GuessWhat in 72 children (75% male, average age 8 years 2 months) with autism who were asked to play the game for three 90-second sessions per day, 3 days per week, for a total of 4 weeks. The group showed significant improvements in Social Responsiveness Score-2 (SRS-2) total (3.97, p <0.001) and Vineland Adaptive Behavior Scales-II (VABS-II) socialization standard (5.27, p = 0.002) scores. Conclusion The results support that the GuessWhat mobile game is a viable approach for efficacious treatment of autism and further support the possibility that the game can be used in natural settings to increase access to treatment when barriers to care exist.

Cognitive and Behavioral Domains That Reliably Differentiate Normal Aging and Dementia in Down Syndrome

Primary care integration of Down syndrome (DS)-specific dementia screening is strongly advised. The current study employed principal components analysis (PCA) and classification and regression tree (CART) analyses to identify an abbreviated battery for dementia classification. Scale- and subscale-level scores from 141 participants (no dementia n = 68; probable Alzheimer’s disease n = 73), for the Severe Impairment Battery (SIB), Dementia Scale for People with Learning Disabilities (DLD), and Vineland Adaptive Behavior Scales—Second Edition (Vineland-II) were analyzed. Two principle components (PC1, PC2) were identified with the odds of a probable dementia diagnosis increasing 2.54 times per PC1 unit increase and by 3.73 times per PC2 unit increase. CART analysis identified that the DLD sum of cognitive scores (SCS < 35 raw) and Vineland-II community subdomain (<36 raw) scores best classified dementia. No significant difference in the PCA versus CART area under the curve (AUC) was noted (D(65.196) = −0.57683; p = 0.57; PCA AUC = 0.87; CART AUC = 0.91). The PCA sensitivity was 80% and specificity was 70%; CART was 100% and specificity was 81%. These results support an abbreviated dementia screening battery to identify at-risk individuals with DS in primary care settings to guide specialized diagnostic referral.

Adaptive Behavior as an Alternative Outcome to Intelligence Quotient in Studies of Children at Risk: A Study of Preschool-Aged Children in Flint, MI, USA

Intelligence quotient (IQ) is commonly measured in child development studies, while adaptive behavior is less frequently considered. Given its associations with functional outcomes in children with neurodevelopmental disabilities, adaptive behavior may be a useful outcome in general population samples, as well. This study aimed to compare social and environmental correlates of adaptive behavior vs. IQ in a sample of preschoolers exposed to the Flint water crisis (N = 184). Mother–child dyads were recruited from the community and administered a comprehensive battery to obtain information about child neurodevelopmental functioning, including direct assessment of IQ via the Wechsler Preschool and Primary Scale of Intelligence and assessment of parent-reported adaptive functioning via the Vineland Adaptive Behavior Scales. Multiple social environmental factors were explored as potential correlates of child outcomes (i.e., IQ and adaptive behavior), and robust correlates were identified using a data-driven approach [i.e., least absolute shrinkage and selection operator (LASSO) regression]. We then examined associations between the LASSO-selected predictors and IQ and adaptive behavior while controlling for child age, child sex, and maternal age. Children in this sample showed relative strength in adaptive behaviors, with scores in the adequate range, while average IQs fell in the low-average range. Adaptive behavior was significantly associated with maternal nurturance practices, while IQ was associated with the maternal education level. Implications for the use of adaptive behavior as an outcome measure in studies of children at an increased risk for neurodevelopmental problems are discussed.

Social Skills Training Using the Thai Version of UCLA PEERS® in Thai Adolescents with Autism Spectrum Disorder

Objective: To study the feasibility and effectiveness of the Thai version of UCLA PEERS® in Thai adolescents with autism spectrum disorder (ASD).Materials and Methods: The UCLA PEERS® was modified to fit with Thai culture. Twelve adolescents, aged 11-19 years old, with ASD participated in this modified 10-session weekly group intervention during March to October 2015 at Siriraj Hospital, Bangkok, Thailand. Feasibility was assessed by parent satisfaction and session attendance rate. Effectiveness was assessed by social skills improvement rated by parents, Vineland Adaptive Behavior Scales (VABS), the Children’s Depression Inventory (CDI), and the Clinical Global Impression-Improvement Scale (CGI-I).Results: All enrolled participants completed the study. Parents’ satisfaction with the program was 81.92%. The session attendance rates ranged from 83.3 to 100%. At the end of intervention, all of the skills trained in the program were rated as improved by at least half of parents. At 4-month follow-up, all but two skills (entering conversation and handling bullying) were still reported as improved by more than 50% of parents. VABS raw scores significantly increased in the domain of communication (95% confidence interval (CI): -2.25 to -0.89; p=0.036), daily living skills (95% CI: -3.70 to -0.47; p=0.016), and socialization (95% CI: -1.77 to -0.40; p=0.005), and significantly decreased in maladaptive behaviors domain (95% CI: 0.24 to 2.10; p=0.002). Six adolescents had CGI-I scores of very much improved or much improved.Conclusion: The Thai version of UCLA PEERS® is a feasible and effective social skills intervention for Thai adolescents with ASD.

Perilaku Maladaptive Anak dan Pengukurannya

Tujuan dari artikel ini adalah berupaya memahami perilaku maladaptive anak dan pengukurannya. Perilaku maladaptive anak merupakan perilaku anak yang tidak mampu menyesuaikan diri atau beradaptasi dengan keadaan sekelilingnya secara wajar, dan tidak mampu beradaptasi sesuai dengan tahapan perkembangan usianya. Permasalahan-permasalahan yang ditimbulkan dari perilaku maladaptive anak dapat menghambat tercapainya perkembangan anak secara optimal. Memahami perilaku maladaptive anak sangat penting untuk meminimalisasi dampak dan tingkat keparahan perilaku. Tulisan ini merupakan reviu literatur. Hasil reviu dalam tulisan ini merupakan bahan rujukan untuk menambah pemahaman terkait konsep perilaku maladaptive anak dan pengukurannya. Perilaku maladaptive anak terbagi dua, yaitu: 1) perilaku maladaptive internalizing, digambarkan seperti ketergantungan, sikap acuh tak acuh, kesulitan makan dan tidur, cemas, perasaan penolakan, perubahan suasana hati, rendahnya kontak mata, kurangnya interaksi sosial; 2) perilaku maladaptive externalizing, dikarakteristikkan seperti perilaku impulsif, tantrum, ketidakpatuhan, tidak peka terhadap orang lain, agresif, keras kepala. Pengukuran untuk menguji perilaku maladaptive anak yang umum digunakan dalam penelitian, diantaranya: 1) Maladaptive Behavior Index-Vineland Adaptive Behavior Scales (MBI-VABS, Sparrow, et al.); 2) Strengths and Difficulties Questionnaire (SDQ, Goodman); dan 3) Child Behavior Checklist (CBCL, Achenbach).

The Moderating Effect of Parenting on Adaptation of Children with Leukemia

Parents’ attitudes and practices may support the children’s reactions to treatments for leukaemia and their general adjustment. This study has two aims: to explore parenting depending on the child’s age and to develop and test a model on how family processes influence the psycho-social development of children with leukaemia. Patients were 118 leukemic children and their parents recruited at the Haematology–Oncologic Clinic of the Department of Paediatrics, University of Padua. All parents were Caucasian with a mean age of 37.39 years (SD = 6.03). Children’s mean age was 5.89 years (SD = 4.21). After the signature of the informed consent, the parents were interviewed using the EFI-C from which we derived Parenting dimension and three parental perceptions on the child’s factors. One year later, the clinical psychologist interviewed again parents using the Vineland Adaptive Behavior Scales (VABS). The analyses revealed the presence of a significant difference in parenting by the child’s age: Infants required a higher and more intensive parenting. The child’s coping with medical procedures at the second week after the diagnosis, controlled for parenting effect, impacted upon the child’s adaptation one-year post diagnosis. Specific intervention programmes are proposed in order to help children more at risk just after the diagnosis of developmental delays.

Neurodevelopmental phenotypes associated with pathogenic variants in SLC6A1

BackgroundSLC6A1 encodes GAT-1, a major gamma-aminobutyric acid (GABA) transporter in the brain. GAT-1 maintains neurotransmitter homeostasis by removing excess GABA from the synaptic cleft. Pathogenic variants in SLC6A1 disrupt the reuptake of GABA and are associated with a neurobehavioural phenotype.MethodsMedical history interviews, seizure surveys, Vineland Adaptive Behavior Scales Second Edition and other behavioural surveys were completed by primary care givers of 28 participants in Simons Searchlight. All participants underwent clinical whole exome sequencing or gene panel sequencing. Additional cases from the medical literature with comparable data were included.ResultsWe identified 28 individuals with largely de novo pathogenic/likely pathogenic variants including missense (15/21 or 71%) and truncating variants (6/21 or 29%). Missense variants were largely clustered around the sixth and seventh transmembrane domains, which functions as a GABA binding pocket. The phenotype of individuals with pathogenic variants in SLC6A1 includes hypotonia, intellectual disability/developmental delay, language disorder/speech delay, autism spectrum disorder, sleep issues and seizures.ConclusionPathogenic variants in SLC6A1 are associated with a clinical phenotype of developmental delay, behaviour problems and seizures. Understanding of the genotype–phenotype correlation within SLC6A1 may provide opportunities to develop new treatments for GABA-related conditions.

Identifying Childhood Expressive Language Features That Best Predict Adult Language and Communication Outcome in Individuals With Autism Spectrum Disorder

Purpose Several studies have reported that “useful speech” at 5 years of age predicts outcomes in individuals with autism spectrum disorder (ASD), but this skill has been vaguely defined. This study investigates which specific aspects of expressive language in children with ASD best predict adult language and communication outcomes. Method Language samples from 29 children (ages 47–72 months) enrolled in a longitudinal project (e.g., Lord et al., 2006 ) were transcribed and coded for spoken language features. Hierarchical linear regression was used to compare the following childhood variables as predictors of adult language and communication outcomes: noun diversity, verb diversity, mean length of utterance, and proportion of utterances that were socially motivated. Results Childhood verb diversity was a value-added predictor of all four adult outcome measures (i.e., verbal IQ, Autism Diagnostic Observation Schedule Communication + Social Interaction Algorithm totals, Peabody Picture Vocabulary Test scores, and Vineland Adaptive Behavior Scales Communication Domain scores), while noun diversity and proportion of utterances that were socially motivated were not value-added predictors of any adult outcome measures. In a second set of regression analyses, mean length of utterance was substituted for verb diversity and was a value-added predictor of two out of four adult outcome measures (i.e., verbal IQ and Vineland Adaptive Behavior Scales Communication Domain scores). The pattern of findings for the other predictors remained the same as in the previous analyses. Conclusion These results have implications for our understanding of early language in ASD and for clinical decision making in early childhood.

The first awake simultaneous PET-MR study of an adult with fragile X syndrome: A case report

Introduction: Fragile X syndrome (FXS) is a debilitating neurogenetic disorder that can result in a multitude of impairments in cognition, memory, and learning. Case Presentation: a 25-year-old male with FXS participated in this study. The participant obtained scores in the non-spectrum range on the Autism Diagnostic Observation Scale and obtained an full scale IQ score of 57 (Verbal IQ = 23 and Nonverbal IQ = 34) on the Stanford-Binet Intelligence Scales (SB-5). On the Vineland Adaptive Behavior Scales, 2nd Edition (VABS-2) he obtained a composite score of 66. Pre-scan serum cortisol reactivity was 16.45 mcg/dL. Following a [18F]flumazenil (5mCi) intravenous bolus injection, the participant was scanned without sedation on a hybrid PET-MR system (Signa, GE Healthcare, Waukesha, WI) for 60 mins. List mode PET data, structural and diffusion MRI (DWI), and MR spectroscopy (MRS) were acquired simultaneously. Quantitative PET and DWI measures were extracted from 83 pre-defined regions of interest. MRS data was collected from two 20 cc voxels (thalamus and dorsolateral prefrontal cortex). Conclusion: This is the first study to investigate neuromolecular behavior in FXS without the use of sedation using PET-MR. Mapping the neuromolecular differences in FXS can lead to targeted treatments that can significantly improve quality of life for families and individuals with intellectual disabilities.