Consequences of the Covid-19 pandemic in children and adolescents with attention deficit hyperactivity disorder - a systematic review

Abstract Objective In this systematic review (SR), the authors aimed to identify the possible impact of the social restriction imposed by the Coronavirus Disease-19 (COVID-19) pandemic on children/adolescents with Attention Deficit Hyperactivity Disorder (ADHD). Data sources This SR was registered on PROSPERO CRD42021255569. Eligible articles were selected from PubMed, Embase, and LILACS, according to the following characteristics: ADHD patients < 18 years old, exposed to the COVID-19 pandemic, and the outcomes, medications, relationships, sleep, media use, remote learning, and comorbidities such as depression/sadness, inattention, anxiety, and irritability/aggressiveness. Newcastle-Ottawa Scale (NOS) for cohort, cross-sectional and case-control studies was used to assess methodological quality and the risk of bias. Summary of findings Of the 222 articles identified, 27 were included, with information on 7,235 patients. Most studies (n = 22) were cross-sectional and received a mean NOS 4.63/10 followed by longitudinal (n = 4) with 3.75/8 points and case-control (n = 1), with 3/9 points. The pandemic affected patients' access to treatment, behavior, and sleep. Difficulties in remote learning and increased use of social media were described, as well as significant and positive changes in relationships with family and peers. Conclusion Although the studies were heterogeneous, they indicated that the pandemic-related issues experienced by patients with ADHD were mostly manifested affecting their behavior and sleep patterns.

Síndrome de Aicardi: revisión bibliográfica

Introducción: el síndrome de Aicardi (SA; OMIM #304050) es un trastorno genético raro, cuya incidencia es de aproximadamente 1/100.000. Fue descrito en 1965 como una triada consistente en agenesia del cuerpo calloso, lagunas coriorretinianas y espasmos infantiles. Asocia discapacidad intelectual severa y epilepsia de difícil control. Aunque su espectro clínico es variable, tiene por lo general un pronóstico infausto debido a la elevada morbimortalidad asociada. Se considera un trastorno esporádico causado por variantes patogénicas en heterocigosis de un gen ligado al cromosoma X, que causa mortalidad embrionaria en varones hemicigotos. Objetivo: este trabajo pretende llevar a cabo una revisión bibliográfica acerca de la literatura científica disponible del síndrome de Aicardi. De esta manera se hará una actualización sobre esta entidad en cuanto a definiciones, prevalencia e incidencia, etiología, espectro clínico y pronóstico de los pacientes afectos. Materiales y métodos: se lleva a cabo una búsqueda bibliográfica retrospectiva en las principales bases de datos científicas. Para ello, se utilizan las palabras clave "Aicardi", "agenesia del cuerpo calloso", "espasmos infantiles" y "encefalopatía epiléptica". Conclusiones: desde su descripción se ha ido ampliando el espectro de manifestaciones clínicas del síndrome. Actualmente no se conoce la existencia de un biomarcador que posibilite el diagnóstico, por lo que éste continúa siendo eminentemente clínico. Se debe tener un alto nivel de sospecha en espasmos infantiles de debut precoz en mujeres con alteraciones en neuroimagen.

Introduction: Aicardi syndrome (AS; OMIM #304050) is a rare genetic disorder, with an incidence of approximately 1/100,000. It was described in 1965 as a triad consisting of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms. It is associated with severe intellectual disability and difficult-to-control epilepsy. Although its clinical spectrum is variable, it generally has a poor prognosis due to the associated morbidity and mortality. It is considered a sporadic disorder caused by heterozygous pathogenic variants of a gene linked to the X chromosome, which causes embryonic mortality in hemizygous males. Objective: this article performs a bibliographic review of the available scientific literature on Aicardi syndrome. In doing so, we hope to update the disorder's definitions, prevalence and incidence, etiology, clinical spectrum and prognosis of affected patients. Materials and methods: we performed a retrospective bibliographic search in the main scientific databases. For this, we searched for the keywords "Aicardi", "agenesia of the corpus callosum", "infantile spasms" and "epileptic encephalopathy". Conclusions: since it was first described, the spectrum of clinical manifestations of the syndrome has been expanding. Currently, there is no known biomarker that makes diagnosis possible, so it continues to be eminently clinical diagnosis. A high level of suspicion should be present in cases of early-onset infantile spasms in women with neuroimaging abnormalities.

Recent research on neurodevelopmental disorders in children / 中国当代儿科杂志

Neurodevelopmental disorders (NDDs) in children are a group of chronic developmental brain disorders caused by multiple genetic or acquired causes, including disorders of intellectual development, developmental speech or language disorders, autism spectrum disorders, developmental learning disorders, attention deficit hyperactivity disorder, tic disorders, and other neurodevelopmental disorders. With the improvement in the research level and the diagnosis and treatment techniques of NDDs, great progress has been made in the research on NDDs in children. This article reviews the research advances in NDDs, in order to further improve the breadth and depth of the understanding of NDDs in children among pediatricians.

Clinical features of six patients with Neurodevelopmental disorder with spastic diplegia and visual defects caused by CTNNB1 gene mutation / 中华检验医学杂志

Objective:To investigate the clinical features and characteristics of gene mutation of patients with neurodevelopmental disorder caused by CTNNB1 gene. Method:Genetic mutation analysis of the patients were obtained by using the whole exome sequencing and Sanger sequencing. We reviewed the literatures for the clinical and genetic features of CTNNB1 related neurodevelopmental disorder. Results:Six inpatients, three boys and three girls, who came for speech impairment motor delay were included in this study. The average age for the patients was 17.8±11.1 months. The main clinical manifestations of the patients were craniofacial dysmorphism, microcephaly, hypertonia or spasm, speech impairment motor delay, esotropia and valgus. WES showed that 6 patients carried de novo mutations of CTNNB1 gene, which were c.1057delA, c.1493_1494insA, c.418_424del, c.1985_1988del, c.1420C>T and c.1550T>C. No abnormality was found in the patients′ parents. Conclusions:The clinical manifestation of CTNNB1 related neurodevelopmental disorder involves multiple systems. We found five unreported variants and expanded the variation spectrum of the CTNNB1 gene.

Efectos deletéreos en el desarrollo de los niños a causa de la exposición temprana a pantallas: revisión de la literatura

Desde la década de los 90 debido al aumento en el consumo de material audiovisual y particularmente desde el inicio del confinamiento por la pandemia de COVID-19, la humanidad ha estado más expuesta al uso de pantallas, siendo los niños una población vulnerable al estímulo ambiental debido a que están atravesando períodos críticos importantes en su desarrollo. Se realizó una búsqueda de la literatura en PubMed, Google Scholar y Lilacs. Aplicando los criterios de exclusión e inclusión se obtuvieron 53 referencias de las cuales se desarrolló la revisión. Se encontró que la excesiva exposición a pantallas es perjudicial para los niños al producir alteraciones del lenguaje, la sociabilidad, ciclo sueño-vigilia, el sistema límbico, la conducta y el sistema mesolímbico dopaminérgico; los cuales pueden afectar su desarrollo normal, dependiendo principalmente de la edad al momento de la exposición, del tiempo y si hay acompañamiento o no.

Since the 1990s, due to the increase in the consumption of audiovisual material and particularly since the onset of the COVID-19 pandemic confinement, the population has been more exposed to development. A literature search was conducted in PubMed, Google Scholar and Lilacs. Applying the exclusion and inclusion criteria, 53 references were obtained, from which the review was developed. It was found that excessive exposure to screens is harmful to children as it produces alterations in language, sociability, sleep-wake cycle, limbic system, behavior and mesolimbic dopaminergic system; which can affect the normal development of a child, depending mainly on the age at the time of exposure, the time and whether there is accompaniment or not.

Research progress on neurodevelopmental disorders in children with Duchenne muscular dystrophy / 中华实用儿科临床杂志

Duchenne muscular dystrophy (DMD) is a disease inherited in an X-linked recessive pattern, which is caused by the pathogenic mutation of the gene encoding Dystrophin.An increasing number of studies have confirmed the high risk of neurodevelopmental disorders in children with DMD, and that related comorbidities have distinct clinical characteristics.In this article, the research progress on neurodevelopmental disorders in children with DMD was reviewed to clarify the prevalence, clinical characteristics and high-risk factors of neurodevelopmental disorders in children with DMD.DMD therapy teams should pay attention to the evaluation, interpretation and early intervention of neurodevelopmental disorders in clinic practice, so as to improve the life quality of DMD children and help them to be-tter integrate into the society.

Case report of neurodevelopmental disorder associated with de novo MORC2 mutation / 中华实用儿科临床杂志

The clinical data of a child with MORC2 gene mutation related neurodevelopmental disorder treated in Fujian Medical University Union Hospital in July 2020 were analyzed retrospectively.The male (7-year-old)patient was global retardation from infant, with special face, short stature, small head circumference, decreased muscle strength and positive pyramidal tract sign of lower limbs.Brain magnetic resonance imaging was similar to the changes of Leigh syndrome.Genetic testing found de novo mutation in MORC2 gene chr22: 31345763, c.292G>A(p.Gly98Arg). And literature review found that there was only one related report. MORC2 gene mutation related neurodevelopmental disorder is a newly discovered syndrome, and c. 79G>A(p.Glu27Lys) is the most common mutation.This case enriched the clinical phenotype and genotype of neurodevelopmental disorder related to MORC2 gene.

Research progress in the application of functional near infrared spectroscopy in children language development / 中华实用儿科临床杂志

Functional near infrared spectroscopy (fNIRS) is an emerging neuroimaging technology, which has such advantages as non-invasiveness, portability, robustness to motion and no noise over other neuroimaging tools.Therefore, it has important values in the research of children language development.fNIRS has been currently applied to the study of neonatal word recognition, infant speech perception, language functional lateralization, bilingual cognitive mechanism, language related neurodevelopmental disorders, etc.It has a bright future of applications in the field of children language development.

RhoGEF Trio Regulates Radial Migration of Projection Neurons via Its Distinct Domains / 神经科学通报·英文版

The radial migration of cortical pyramidal neurons (PNs) during corticogenesis is necessary for establishing a multilayered cerebral cortex. Neuronal migration defects are considered a critical etiology of neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia, epilepsy, and intellectual disability (ID). TRIO is a high-risk candidate gene for ASDs and ID. However, its role in embryonic radial migration and the etiology of ASDs and ID are not fully understood. In this study, we found that the in vivo conditional knockout or in utero knockout of Trio in excitatory precursors in the neocortex caused aberrant polarity and halted the migration of late-born PNs. Further investigation of the underlying mechanism revealed that the interaction of the Trio N-terminal SH3 domain with Myosin X mediated the adherence of migrating neurons to radial glial fibers through regulating the membrane location of neuronal cadherin (N-cadherin). Also, independent or synergistic overexpression of RAC1 and RHOA showed different phenotypic recoveries of the abnormal neuronal migration by affecting the morphological transition and/or the glial fiber-dependent locomotion. Taken together, our findings clarify a novel mechanism of Trio in regulating N-cadherin cell surface expression via the interaction of Myosin X with its N-terminal SH3 domain. These results suggest the vital roles of the guanine nucleotide exchange factor 1 (GEF1) and GEF2 domains in regulating radial migration by activating their Rho GTPase effectors in both distinct and cooperative manners, which might be associated with the abnormal phenotypes in neurodevelopmental disorders.

Reporte de caso: síndrome de Schaaf Yang / Case report: Schaag Yang síndrome

RESUMEN Introducción: El síndrome Schaaf Yang (SHFYNG) constituye un desorden multisistémico caracterizado por un grupo de signos y síntomas relacionados con alteraciones genéticas, congénitas y de expresión clínica multivariable. Fue descrito por primera vez por el Dr. Schaaf y la Dra. Yaping, profesores de Genética Molecular y Humana de la Universidad de Houston y Baylor, respectivamente, en 2013 (1). El síndrome SHFYNG tiene una herencia autosómica dominante con una mutación presente en el alelo paterno, ya que el gen MA-GEL2 tiene una impronta materna y solo se expresa el alelo paterno. A diferencia de otras patologías autosómicas dominantes clásicas, el síndrome SHFYNG puede saltar varias generaciones siempre que la mutación resida en el cromosoma materno. Presentación del caso. Preescolar femenina, con antecedente de estancia en UCIN por hipotonía neonatal y pobre succión, bronquitis y neumonía. Su fenotipo está caracterizado por facies hipotónicas, frente prominente, epicanto interno, pómulos prominentes, puente nasal bajo, nariz ancha, labio superior delgado, orejas aladas, cuello corto y obesidad central. Presenta retraso en el neurodesarrollo, lenguaje y psicomotor. Estudios genéticos: cariotipo 46,XX e hibridación genómica comparativa con patrón genómico normal, sexo femenino, en exoma trío se identifica una variante patogénica: c.1996dupC (p.Gln666Profs*47) en el gen MAGEL2 asociada con SHFYNG. Conclusión. Se informa el primer reporte de este síndrome a nivel nacional con una incidencia mundial muy baja, estimándose aproximadamente <1/1.000.000 de nacidos vivos, lo que permite ampliar el conocimiento y sospechar patologías de difícil diagnóstico como esta.

ABSTRACT Introduction: Schaaf Yang Syndrome (SHFYNG) is a multisystemic disorder characterized by a group of signs and symptoms related to genetic, congenital, and multivariate clinical alterations. It was first described by Dr. Schaaf and Dr. Yaping, professors of Molecular and Human Genetics at the University of Houston and Baylor, respectively, in 2013 (1). SHFYNG has an autosomal dominant inheritance with a mutation located in the paternal allele, since the MAGEL2 gene has a maternal imprint and only the paternal allele is expressed. Unlike other classic autosomal dominant pathologies, SHFYNG syndrome can skip several generations, as long as the mutation resides on the maternal chromosome. Presentation of the case: Female preschooler, with a history of stay in the Neonatal Intensive Care Unit, due to neonatal hypotonia and poor suction, bronchitis, and pneumonia. Her phenotype is distinguished by hypotonic facies, prominent forehead, internal epican-thus, prominent cheekbones, low nasal bridge, broad nose, thin upper lip, winged ears, short neck, and central obesity. She presents neurodevelopmental, language, and psychomotor delay. Genetic studies: 46,XX karyotype, comparative genomic hybridization: normal genomic pattern, female sex, trio exam a pathogenic variant c.1996dupC (p.Gln666Profs*47) in the MAGEL2 gene associated with SHFYNG syndrome. Conclusion: It is reported to be the first national report of this syndrome, with a very low worldwide incidence, estimating approximately <1 / 1,000,000 live births, which allows us to expand knowledge and suspect difficult-to-diagnose pathologies like this one.

Síndrome de Rett: reporte de una nueva variante patogénica y revisión de la literatura a propósito de dos casos clínicos / Rett syndrome: report of a new pathogenic variant and review of the literature regarding two clinical cases

Resumen Introducción: El síndrome de Rett es un trastorno del neurodesarrollo con una frecuencia estimada de 1/10,000 recién nacidos vivos, el cual se presenta con un modelo de herencia ligado al cromosoma X. Las variantes patogénicas en el gen MECP2, el cual codifica para una proteína que participa en el desarrollo y la diferenciación del sistema nervioso central, causan este síndrome. El objetivo de este trabajo fue describir dos casos de síndrome de Rett, uno de ellos con una nueva variante del gen MECP2. Casos clínicos: El primer caso se trata de una paciente de 5 años con microcefalia y regresión del neurodesarrollo desde los 3 años. Clínicamente se diagnosticó de síndrome de Rett en estadio III. Se realizó la secuenciación del gen MECP2 y se identificó una variante probablemente patogénica en estado heterocigoto, c.606delC (p.Thr203Argfs*7), que no ha sido reportada previamente. El segundo caso es una paciente de 17 años, referida por discapacidad intelectual grave, que se encontró clínicamente en estadio IV. Se realizó la secuenciación de MECP2 y se identificó una variante patogénica [c.880C>T(p.Arg294*)] ya descrita previamente. Conclusiones: El diagnóstico clínico de síndrome de Rett se llevó a cabo con criterios establecidos. La confirmación diagnóstica fue mediante la secuenciación de MECP2. Para el correcto abordaje de los trastornos del neurodesarrollo es primordial conocer el fenotipo de síndrome de Rett, así como optar por el análisis molecular para la confirmación del diagnóstico. Los pacientes con síndrome de Rett requieren un seguimiento interdisciplinario para disminuir el impacto de las complicaciones.

Abstract Background: Rett syndrome is an X-linked neurodevelopmental disorder with an estimated frequency of 1/10,000 live births caused by hetereozygous pathogenic variants in the MECP2 gene, whose protein participates in the development and differentiation of the central nervous system. This study aimed to describe two cases with Rett syndrome diagnosis, one of them with a new variant of the MECP2 gene. Case reports: We first describe the case of a 5-year-old female with microcephaly and neurodevelopmental regression starting at 3 years old, clinically corresponding to stage III Rett syndrome. Sequencing of the MECP2 gene identified a heterozygous likely pathogenic variant [c.606delC (p.Thr203Argfs*7)] not reported previously. The second case is a 17-year-old female, referred due to severe intellectual disability, clinically found on stage IV. MECP2 sequencing was performed identifying a pathogenic variant previously described [c.880C> T (p.Arg294 *)]. Conclusions: Rett syndrome clinical diagnosis was carried out based on established criteria. MECP2 sequencing confirmed the diagnosis. For neurodevelopmental disorders approach, it is essential to know the phenotype of Rett syndrome and select the molecular tool for the diagnosis. Patients with Rett syndrome require interdisciplinary follow-up for reducing the impact of complications.

Effect Of Manual Therapy (MET) Vs Conventional Therapy For Improving Tendo-Achilles (TA) Flexibility And Foot Posture In Children With Autism Spectrum Disorder

Background: Autism Spectrum Disorder (ASD) is a disorder of neurodevelopment, which affects individuals across social, ethnic, and geographic groups. Autistic children have difficulty with gross motor and fine motor functioning difficulties, including a wide range of signs and symptoms. Toe walking due to TA tightness is commonly observed gait in autistic children altering foot posture in them. The knowledge about the abnormalities can be useful for the assessment and treatment planning of ASD children. We evaluated TA tightness, ROM of the ankle joint, and compare the effect of manual therapy (MET) and conventional therapy for improving TA flexibility and foot posture. Methods: An RCT included 20 diagnosed autistic children(13male,7female) as per inclusion criteria the subjects were divided into two groups, i.e., group A and B, the group A was given Conventional Therapy in the form of passive stretching whereas Group B was given Manual Therapy in the form Muscle Energy Technique. The participants were clinically examined and evaluate TA tightness in the form of Elastography, Range of motion, and foot posture. Data were taken as pre and after post-intervention. Results: There were significant changes in elastography readings, foot posture index, and range of motion in both groups post-intervention, but significant improvement was observed in group B as compared to group A, i.e., p>0.05. Conclusion: This has been concluded that there is a significant effect of Manual therapy in the form of muscle energy technique for improving TA flexibility and foot posture as compared to conventional treatment.

Progress in neuromodulation therapy for Tourette′s syndrome / 中华神经科杂志

Tourette′s syndrome (TS) is a common neurodevelopmental disorder that affects the learning and life of children. So far, its pathogenesis remains unclear and its treatment effect is limited. As an important means of non-pharmacological treatment, neuromodulation technology has some curative effects on TS. This article describes the progress in neuromodulation therapy of TS, so as to facilitate the development of new technologies for the treatment of such patients.

Progress in neuromodulation therapy for Tourette's syndrome / 中华神经科杂志

Tourette's syndrome (TS) is a common neurodevelopmental disorder that affects the learning and life of children.So far,its pathogenesis remains unclear and its treatment effect is limited.As an important means of non-pharmacological treatment,neuromodulation technology has some curative effects on TS.This article describes the progress in neuromodulation therapy of TS,so as to facilitate the development of new technologies for the treatment of such patients.

Developmental Coordination Disorder (DCD): An overview of the condition and research evidence

Abstract Developmental Coordination Disorder (DCD) is a neurodevelopmental condition marked by impairments in the development of motor coordination. The uncoordinated movements of children with DCD lead to performance difficulties in daily life activities and academic settings. Despite the high prevalence of this condition (2-7%) and severe consequences associated with it, DCD is not well recognized in clinical and educational practices, particularly in Brazil. This review provides an overview of DCD and the research evidence - we present definitions and characteristics associated with the condition, the diagnostic criteria, associated difficulties, frequent co-morbidities and a summary of the possible causes. Finally, we review management strategies and intervention approaches for DCD. We also discuss some of the common challenges of the field - while DCD has been largely studied in the last decade, there are still many gaps between research and practice that need to be filled. Awareness and dissemination of relevant, scientific information is necessary. In conclusion, DCD is a significant condition with a clear diagnostic criteria, and requires intervention to improve motor and functional skills, which can improve the associated difficulties as well as the physical and mental health consequences of the condition.

Genetic etiology analysis of 420 children with neurodevelopmental disorders / 中华实用儿科临床杂志

Objective@#To investigate the genetic etiology of neurodevelopmental disorders (NDD), and to provide a theoretical basis for its genetic counseling, family risk evaluation and prenatal diagnosis.@*Methods@#Karyotype analysis and chromosome microarray analysis (CMA) were conducted of the data from 420 children diagnosed accor-ding to NDD diagnostic criteria at Maternal and Child Health Hospital of Hunan Province from January 2016 to December 2018.@*Results@#Among the 420 cases, 14 cases (3.33%, 14/420 cases) with global developmental disabilities/intellectual disabilities (GDD/ID) had chromosomal abnormalities.The location of chromosome breakpoints and the range of deleted or duplicated fragments in 13 cases were further determined by using CMA.In this study, pathogenic copy number variations (CNVs) were detected in 61 children (14.52%, 61/420 cases), which included 31 cases (50.82%, 31/61 cases) of known syndromes, including Angelman/Prader-Will syndrome (8 cases), Williams syndrome (3 cases), Phelan-McDermid syndrome (3 cases) and other 13 syndromes, and 30 cases with clinically significant pathogenic CNVs.Additionally, by the combination of CMA and fluorescence in situ hybridization (FISH), a family were diagnosed with mental retardation caused by 10q26 and 12p13 occult rearrangement.@*Conclusions@#Chromosomal abnormalities and genomic microdeletion/duplication are the primary genetic causes for children with NDD.Combination of karyotype analysis, CMA and FISH can provide definite etiological diagnosis for these children, which has important clinical signi-ficance for the treatment of children and guidance of their parents′ reproduction.

Influence of clozapine on neurodevelopmental protein expression and behavioral patterns in animal model of psychiatric disorder induced by low-level of lead

Exposure to lead during pregnancy is a risk factor for the development of psychiatric disorders in the offspring. In this study, we investigated whether exposure to low levels of lead acetate (0.2%) in drinking water during pregnancy and lactation causes behavioral impairment and affects the expression of proteins associated with neurodevelopment. Lead exposure altered several parameters in rat offspring compared with those unexposed in open-field, social interaction, and pre-pulse inhibition tests. These parameters were restored to normal levels after clozapine treatment. Western blot and immunohistochemical analyses of the hippocampus revealed that several neurodevelopmental proteins were downregulated in lead-exposed rats. The expression was normalized after clozapine treatment (5 mg/kg/day, postnatal day 35–56). These findings demonstrate that downregulation of several proteins in lead-exposed rats affected subsequent behavioral changes. Our results suggest that lead exposure in early life may induce psychiatric disorders and treatment with antipsychotics such as clozapine may reduce their incidence.

Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders / 神经科学通报·英文版

Chromosome microarray analysis (CMA) is a cost-effective molecular cytogenetic technique that has been used as a first-line diagnostic test in neurodevelopmental disorders in the USA since 2011. The impact of CMA results on clinical practice in China is not yet well studied, so we aimed to better evaluate this phenomenon. We analyzed the CMA results from 434 patients in our clinic, and characterized their molecular diagnoses, clinical features, and follow-up clinical actions based on these results. The overall diagnostic yield for our patients was 13.6% (59 out of 434). This gave a detection rate of 14.7% for developmental delay/intellectual disability (DD/ID, 38/259) and 12% for autism spectrum disorders (ASDs, 21/175). Thirty-three recurrent (n ≥ 2) variants were found, distributed at six chromosomal loci involving known chromosome syndromes (such as DiGeorge, Williams Beuren, and Angelman/Prader-Willi syndromes). The spectrum of positive copy number variants in our study was comparable to that reported in Caucasian populations, but with specific characteristics. Parental origin tests indicated an effect involving a significant maternal transmission bias to sons. The majority of patients with positive results (94.9%) had benefits, allowing earlier diagnosis (36/59), prioritized full clinical management (28/59), medication changes (7/59), a changed prognosis (30/59), and prenatal genetic counseling (15/59). Our results provide information on de novo mutations in Chinese children with DD/ID and/or ASDs. Our data showed that microarray testing provides immediate clinical utility for patients. It is expected that the personalized medical care of children with developmental disabilities will lead to improved outcomes in long-term developmental potential. We advocate using the diagnostic yield of clinically actionable results to evaluate CMA as it provides information of both clinical validity and clinical utility.

Comparative Analysis of the WISC between Two ADHD Subgroups

OBJECTIVE: The prevalence of attention deficit/hyperactivity disorder (ADHD) in school-age children is 7.2%, and ADHD is divided into clinical subtypes. METHODS: The current study explored whether specific cognitive profiles as assessed using the Wechsler Intelligence Scale for Children (WISC)-IV could be obtained for each clinical ADHD subtype (ADHD-Inattentive type and ADHD-Combined type) and investigated the correlation between WISC scores and parental age at their children’s birth or birthweight. The enrolled sample comprised 12 ADHD-I and 15 ADHD-C subjects. RESULTS: An impaired Processing Speed Index was found in ADHD-I. The age of the father at the child’s birth and birthweight positively correlated with the full scale intelligence quotient (FSIQ) score in the WISC assessment. CONCLUSION: Inattentiveness within the behaviors of the children with ADHD-I is partly due to the impaired processing speed, therefore effective support for ADHD will be conducted if educator decreases their speaking speed. Since biological basis of ADHD is still largely unknown, future studies using both psychological and biological methods will reveal the etiology of ADHD. These scientific assessments will provide information for more effective approaches in the care of children with ADHD.

Reliability and Validity of a New Comprehensive Tool for Assessing Challenging Behaviors in Autism Spectrum Disorder

OBJECTIVE: The purpose of this study was to examine the validity and reliability of the Korean Comprehensive Scale for the Assessment of Challenging Behavior in Developmental Disorders (K-CSCB). METHODS: In total, the parents of 189 patients with autism spectrum disorder (ASD) and 168 controls completed the K-CSCB, the Behavior Problems Inventory (BPI) and Child Behavior Checklist (CBCL). The reliability and validity of the K-CSCB was investigated. RESULTS: The K-CSCB was found to be a reliable instrument (Cronbach's α=0.97). There was a significant difference between the ASD and control groups in all subscale scores. Scores on the K-CSCB subscales were significantly correlated with those on the BPI and CBCL. The diagnostic validity was 97.7%, and the cut-off score with the highest sensitivity and specificity was 12.5 points. CONCLUSION: The K-CSCB is the first tool in Korean to assess problematic behavior in individuals with ASD, and this study shows that it is a valid and reliable instrument. We expect the K-CSCB to be widely used in clinical and research settings.