Social cognition in two brothers with Becker muscular dystrophy: an exploratory study revealing divergent behavioral phenotypes.

BACKGROUND AND OBJECTIVE: Only few studies investigated social cognition in Becker muscular dystrophy (BMD). However, brain dystrophin deficiency could be a neural substrate for cognitive, emotional, and neuropsychological features in BMD. METHODS: We compared interoceptive accuracy and interpersonal comfort distance in two brothers with BMD presenting with the same genetic deletion and a healthy control. When possible, we collected neuropsychological and psychopathological assessments. RESULTS: Our BMD patients were significantly different in interoceptive accuracy, with patient 1 being extremely accurate and patient 2 being significantly less accurate than his brother but more accurate than the control. Interestingly, they presented opposite patterns of interpersonal distance. Patient 1 was comfortable with very short interpersonal distance (≤50 cm from the confederate/object) vs the control and patient 2. By contrast, patient 2 preferred larger distance vs the control and patient 1. Patient 1 also presented difficulties in social and emotional skills on the psychopathological assessment. CONCLUSIONS: We are aware this is a small sample; nonetheless, this is also the first description of such aspects in BMD and the first report ever of such divergent behavioral pattern. As impaired social cognition affects the quality of life and social relationship, further studies are needed for a closer understanding of involved mechanisms.

Factors associated with pharmacological treatment in children with attention-deficit/hyperactivity disorders: a retrospective study of a series of 77 cases in a single third-level reference Centre in Apulia region.

BACKGROUND: The present study analysed data on children and adolescents with a diagnosis of attention-deficit/hyperactivity disorder (ADHD) who were referred to the ADHD reference centre of Scientific Institute IRCCS E. Medea (Brindisi, Italy) for ADHD pharmacotherapy initiation and monitoring overtime. The main aim of the study was to examine differences in pharmacological treatment status (i.e., treatment continuation vs discontinuation) between patients. METHODS: Seventy-seven children and adolescents (mean age at pharmacotherapy initiation = 9.5, standard deviation = 2.6) with ADHD received drugs treatment for ADHD at the reference center between January, 2013 and May, 2022. Demographic and clinical data were obtained from the Italian Registry for ADHD and medical records. Child Behavior Checklist (CBCL) available data were used. RESULTS: Pharmacological treatment status was examined for patients (n = 63) with at least 12 months of follow-up after the first pharmacological treatment for ADHD. After starting pharmacotherapy treatment, 77.8% (n = 49) patients were still on treatment whereas 22.2% (n = 14) discontinued it. No between group difference were observed in demographic and clinical data except for the intelligence quotient/intellectual disability and rule-breaking behavior (n = 40). CONCLUSIONS: This study stressed the need of periodical assessments, monitoring difficulties with treatment and/or reasons for poor treatment compliance to provide individualized care.

Pain assessment in autism: updating the ethical and methodological challenges through a state-of-the-art review.

Sensory features of autism include hypo- or hyper-reactivity to pain; however, previous studies on pain in autism lead to conflicting results. Here, we present the state of the art and the methodological challenges concerning pain perception in autism, focusing on studies that used standardized protocol as Quantitative Sensory Testing (QST) to measure perception. Despite there are still scant evidences found with the use of QST, they have challenged the presumed hyposensitivity to pain in autisms, which emerged from parents' reports. Both, peripheral and central mechanisms, have been found involved in typical features of perception in autism. Nonetheless, evidences with controlled protocols are still scarce, and even scarcer are studies focused on children. Overall, complex ethical challenges have to be overcome in order to collect subjective and objective measures from autistic children. With heterogeneous neurodevelopmental features, or intellectual disability, novel or modified protocols are needed.

Neuromuscular disorders and transition from pediatric to adult care in a multidisciplinary perspective: a narrative review of the scientific evidence and current debate.

Objective: Standards of care and new genetic and molecular therapies have contributed to increasing life expectancy of patients with neuromuscular diseases (NMDs). This review presents the clinical evidence for an adequate transition from pediatric to adult care in patients with NMDs considering both physical and psychosocial aspects and attempts at identifying a general pattern of transition in the literature that can be used for all patients with NMDs. Method: A search was performed on PubMed, Embase and Scopus using generic terms that could be referred to the transition construct specifically related to NMDs. A narrative approach was used to summarise the available literature. Results: Our review shows that few or no studies explored the transition process from pediatric to adult care in neuromuscular diseases and tried to identify a general pattern of transition applicable to all NMDs. Conclusions: A transition process taking into consideration physical, psychological, social needs of patient and caregiver could produce positive outcomes. However, there is still no unanimous agreement in the literature on what it consists of and how to achieve an optimal and effective transition.

Characterization of Autism Spectrum Disorder (ASD) subtypes based on the relationship between motor skills and social communication abilities.

Motor abnormalities are generally observed in autism spectrum disorder (ASD), and motor difficulties are certainly evident during the early years of life and may thus precede social-communication impairments. The main aim of the present study was to examine ASD subtypes based on the relationship between motor skills and social communication abilities. Motor skills and social communication abilities were evaluated through the Movement Assessment Battery for Children-Second Edition, the Autism Diagnostic Observation Schedule-Second Version and the Psychoeducational Profile-Third Edition. In addition, social communication abilities were classified according to the Autism Classification System of Functioning: Social Communication-ACSF:SC criteria. We found that children with ASD presented poorer motor skills than their TD peers, and motor impairments correlated with poorer social communication abilities in children with ASD. In addition, children with lower social and communication functioning showed a more prominent impairment in manual dexterity and fine motor skills than children with better social and communication functioning. In conclusion, we suggest that stratifying children with ASD based on motor and social endophenotypes may be useful to understand the neurobiological mechanisms of ASD and lead to new types of treatment.

Differences in Developmental Functioning Profiles Between Male and Female Preschoolers Children With Autism Spectrum Disorder.

This study investigated differences in clinical symptoms and developmental functioning profiles as well as sex-specific correlations of clinical characteristics and communication abilities, motor skills, and maladaptive behaviors in male and female preschoolers with autism spectrum disorder (ASD). Fifty-two females (mean age 4.5 ± 2.16 years old) and 62 males (mean age 4.2 ± 1.17 years old) with ASD were enrolled and assessed by measures including the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Psychoeducational Profile-Third Edition (PEP-3). We found intellectual disability in 91.2% of the children. While preschoolers with ASD showed comparable severity of restricted and repetitive behaviors (P = 0.17), females with ASD were less severely affected than age and intelligence quotient-matched males with ASD in the ADOS-2 social affect domain (P value = 0.001) and calibrated severity scores (P = 0.002). Interestingly, sex-specific linear regressions revealed that fine motor skills were predictive of impaired social affect in males but not in females. Specifically, motor skills might be the core feature for sex differences in ASD. Although preliminary, this finding suggests the need for more sex-specific diagnostic and intervention strategies in order to improve early identification efforts and specific intervention targets. LAY SUMMARY: Little is known about differences in developmental and functional profiles in males and females with autism spectrum disorder (ASD). We found important similarities and differences in the core ASD symptoms between male and female preschoolers. In addition, fine motor skills seem to predict social affect impairment and ASD symptom severity in males with ASD. Autism Res 2020, 13: 1537-1547. © 2020 International Society for Autism Research, Wiley Periodicals, Inc.

A systematic review of coping strategies in parents of children with attention deficit hyperactivity disorder (ADHD).

BACKGROUND: Parents of children with attention deficit hyperactivity disorder (ADHD) use several coping strategies to deal with ADHD symptoms impacting family life. AIM: The aim of this systematic review was to summarize the coping strategies used by parents of children with ADHD, identify which tools are most frequently used to measure coping strategies, and examine factors influencing parental coping. METHOD: According to PRISMA guidelines, we searched for articles indexed in PubMed, EBSCOhost, Scopus, and Web of Science using a combination of expressions including "coping" AND "ADHD" OR "attention-deficit/hyperactivity disorder" AND "parent" OR "parenting" OR "caregiver". RESULTS: Fourteen empirical studies were identified as relevant to our research. Many different types of tools are used to assess coping strategies. We found that parents of ADHD children used more avoidant-focused coping strategies than parents of typical children. Mothers of ADHD children sought significantly more support and used more indirect means than mothers of typically developing (TD) children. CONCLUSIONS: This review underlines the importance of further exploring coping mechanisms of parents of children with ADHD in order to promote positive coping strategies for parents of children with ADHD, and to help such parents to identify people who can support them.

Coping, stress and negative psychological outcomes in parents of children admitted to a pediatric neurorehabilitation care unit.

BACKGROUND: Parents' attitudes and psychological adjustment during their child's hospitalization in a pediatric neurorehabilitation care unit are key aspects for the child's adherence to care and the impact of the disease. AIM: The aim of this study was to examine the relationship between parenting stress, coping style, and negative psychological outcomes in families of children admitted for the first time to a pediatric neurorehabilitation care unit. DESIGN: This is an observational study. SETTING: Pediatric neurorehabilitation care unit. POPULATION: One hundred twenty-four parents of children diagnosed with neurodevelopmental or neurological conditions. METHODS: Parents completed standardized questionnaires assessing parenting stress, coping style, anxiety and depressive symptoms. RESULTS: We found that parents of children with neurodevelopmental conditions showed more emotion-focused coping strategies (P=0.016) and depressive symptoms (P=0.01) compared with parents of children with neurological conditions. Hierarchical regression analyses showed that emotion- and avoidance-oriented coping style and socioeconomic status are crucial factors in the adjustment process of parents of children with neurodevelopmental conditions. By contrast, parenting stress and child difficulties were the most significant predictors of negative psychological outcomes in parents with neurological conditions. CONCLUSIONS: This study sought to develop more understanding of the relationship among parenting stress, coping, and anxiety or depressive symptoms in parent of children hospitalized in a pediatric neurorehabilitation care unit. We suggest that examining parents may increase our understanding of the interplay between child and parent functioning in families with children admitted for the first time to a pediatric neurorehabilitation care unit. CLINICAL REHABILITATION IMPACT: Identify these predictors might help professionals to develop screening procedures to identify parent at high risk for anxiety or depression, and to conduct early interventions to reduce uncertainty and maladaptive coping strategies that may influences rehabilitation process.

The Empathizing-Systemizing Theory and 'Extreme Male Brain' (EMB) Theory in Parents of Children with Autism Spectrum Disorders (ASD): An Explorative, Cross-Sectional Study.

The aim of this study was to evaluate whether empathizing and systemizing are part of the parental broad autism phenotype (BAP). Parents (N = 76) of preschool children with a diagnosis of ASD and parents (N = 48) of typically developing (TD) children completed the Empathy Quotient (EQ) and Systemizing Quotient-Revised (SQ-R) questionnaires. The E-S discrepancy (D score) was used to test for sex differences in five "brain types". Our results suggest that the E-S theory do not seem to be part of the BAP. However, a stronger drive to systemize than empathize (Type S brain) could be a highly inheritable cognitive endophenotype of mothers of children with ASD. This study should be repeated with a larger sample size.

Exploring Visual Perspective Taking and body awareness in children with Autism Spectrum Disorder.

INTRODUCTION: Recent evidence suggests that impairments in social cognition are associated to the cognitive abilities needed to take several viewpoints in perceptual situations and body awareness. The aim of the current study was to investigate Visual Perspective Taking (VPT) and Body awareness performance in a group of children with Autism Spectrum Disorders (ASD) compared with a group of children with Intellectual Disability (ID) and typically developing (TD) children. METHODS: Our groups were administered an IQ test and a VPT task, and body awareness tests. RESULTS: Children with ASD or ID were more impaired in body awareness development compared to TD (p < .001) children. The ASD group differentiates largely from the other two groups in the mean VPT (p < .001) scores. CONCLUSIONS: The current study provides a framework for considering social impairments in autism on a broader scale, including visuoperceptual and body awareness difficulties as a core contributor to social interaction difficulties.

Motor competency and social communication skills in preschool children with autism spectrum disorder.

This study aimed to investigate the association between motor competency and social communication in children with Autism Spectrum Disorder (ASD) compared with children with Intellectual Disabilities (ID) and typically developing (TD) children. Motor competency, ASD symptoms, and nonverbal Intelligent Quotient (IQ) were investigated through the following tests: Movement Assessment Battery for Children, second edition (MABC-2), Social Communication Questionnaire (SCQ), Autism Classification System of Functioning: Social Communication (ACSF:SC) and Leiter International Performances Scale Revised (Leiter-R). The ASD + ID and ID groups had lower MABC-2-manual dexterity mean scores, MABC-2-aiming and catching mean scores, MABC-2-static and dynamic balance mean scores and MABC-2-TTS compared with the TD group (P < 0.05). In addition, the ASD + ID group had lower MABC-2-aiming and catching mean scores compared with the ID group. In the ASD + ID group, we found a significant negative correlation (P < 0.001) between MABC-2-aiming and catching scores with SCQ scores, nonverbal IQ and ACSF:SC levels. Our findings provide new insight into the common neuropsychological mechanisms underlying social communication and motor deficits in ASD. Multiple deficits in motor functioning may be present in ASD and ID, however deficits involving the ability to integrate motor and social cues are somewhat specific to ASD. Autism Res 2018, 11: 893-902. © 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: This study highlighted the specificity of motor impairment in ASD comparing performances on a frequently used measure of motor impairment between clinical groups (ASD + ID and ID) and a non-clinical group. While previous research has suggested that multiple deficits in motor functioning may be present in ASD, our findings suggest that deficits in tasks involving the ability to integrate visual and motor cues (aiming and catching task) are somewhat specific to ASD.

Social communication in children with autism spectrum disorder (asd): Correlation between DSM-5 and autism classification system of functioning-social communication (ACSF:SC).

The aim of this study was to classify children with Autism Spectrum Disorder (ASD) according to Autism Classification System of Functioning: Social Communication (ACSF:SC) criteria, in order to investigate the association between social communication ability, ASD severity, adaptive functioning, cognitive abilities and psychoeducational profile. The severity of social communication impairment was specified through Diagnostic and Statistical Manual of Mental Disorders-5th edition (DSM-5) and ACSF:SC tool. The ADOS-2, Vineland-II and PEP-3 were administered to all participants. We found a positive correlation between DSM-5 levels and ACSF:SC-Typical Performance (r = 0.35; P = 0.007) and ACSF:SC-Capacity (r = 0.31; P = 0.01) levels. Children included in the five levels of ACSF:SC (Typical Performance and Capacity) showed statistically significant differences in ADOS-2 (Social Affect), Vineland-II (Communication and Socialization), and PEP-3 (Communication, motor skills, maladaptive behavior) scores. The results of this study indicate that ACSF:SC provide a better understanding of functional profile of children with ASD based on the social communication abilities. Children with greater severity of social communication showed more difficulty in adaptive behavior and psychoeducational profiles. In conclusion, the ACSF:SC could help clinicians and therapists not only to understand the strength and weakness of preschool children with ASD but also to devise specific treatment in order to promote their social integration. Autism Res 2017. © 2017 International Society for Autism Research, Wiley Periodicals, Inc. Autism Res 2017, 10: 1249-1258. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

Microdeletion 12p13.33, though very rare, is an emerging condition associated with variable phenotype including a specific speech delay sound disorder, labelled childhood apraxia of speech (CAS), intellectual disability (ID) and neurobehavioral problems. Here we report a de novo 2.3 Mb interstitial 12p13.33-p13.32 deletion in a 5 year-old child with mild ID, speech delay, microcephaly, muscular hypotonia, and joint laxity. In contrast to previously reported patients with 12p13.33 monosomy, our patient's interstitial deletion spans the 12p13.33-12p13.32 region with the distal breakpoint within intron 12 of CACNA1C. Phenotype-genotype comparison between our case, previously reported patients, and subjects with 12p13.33 deletions led us to propose that haploinsufficiency of CACNA1C may influence the variability of the patients' phenotype, since the gene resulted disrupted or entirely deleted in the majority of reported patients. In addition, phenotypic features such as microcephaly, muscular hypotonia, and joint laxity are mainly present in patients with monosomy of 12p13.33 extending to the 12p13.32 portion. A common region of ~300 kb, harbouring EFCAB4B and PARP11, is deleted in patients with microcephaly while a second region of ~700 kb, including TSPAN9 and PMTR8, could be associated with muscle hypotonia and joint laxity. These data reinforce the hypothesis that multiple haploinsufficient genes and age-dependent observation may concur to generate the variable phenotype associated with 12p13.33 deletion.

Imitation and communication skills development in children with pervasive developmental disorders.

This study evaluates the correlation between failure to develop spontaneous imitation and language skills in pervasive developmental disorders. Sixty-four children between the age of 3 and 8 years were assessed using the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS), and the Autism Diagnostic Observation Schedule (ADOS), as well as direct observation of imitation. The sample was subdivided into a verbal and a nonverbal group. Analysis of mean scores on the CARS "imitation" items and of ADI-R "spontaneous imitation" and "pointing to express interest" revealed a statistically significant difference between verbal and nonverbal groups, with more severe impairment/higher scores in the nonverbal than the verbal group. These results suggest that nonverbal children have specifically impaired imitation and pointing skills.