Rural and Racial/Ethnic Differences in Children Receiving Early Intervention Services.

A review of the literature shows that racial and ethnic minority children (eg, African American, Asian, and Hispanic) received diagnoses for developmental concerns later in life compared with their age-matched white counterparts. Research has also documented disparities in access to and receipt of health care services among children with developmental concerns as compared with children with other disabilities. OBJECTIVES: We examined health care providers' (HCPs') responses to parents' developmental concerns about their children. We looked at the association with race, ethnicity, gender, rurality, and time to diagnosis. METHODS: All data were secondary and derived from the Centers for Disease Control and Prevention's Survey of Pathways to Diagnosis and Services. Participants consisted of 1321 parents of children who had received early intervention services as reported by respondents' data collected in 2011. RESULTS: From a nationally representative sample of families receiving early intervention services, 76% were white, 10% were African American, 3% were Asian, 5% were Native American, and 9% were Hispanic. Families who were Hispanic were more likely to have received only a delaying response from HCPs. The average time to a developmental delay diagnosis was 5 months longer for families who received a delaying HCP response. CONCLUSIONS: Families who were Hispanic or who were from rural areas were most likely to receive a delayed HCP response; for parents who received a delayed HCP response, a developmental delay diagnosis took 5 months longer than for families from the other groups listed.

Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.

BACKGROUND: Mitochondrial encephalomyopathy caused by bi-allelic deleterious variants in TARS2 is rare. To date, only two pedigrees were reported in the literature and the connection between the gene and disease needs further study. CASE PRESENTATION: We report one infant who presented with limb hypertonia, epilepsy, developmental delay, and increased serum lactate from a non-consanguineous Chinese family. Whole-genome sequencing was performed to help to underlie the cause. We identified compound heterozygous variants c.470C > G, p.Thr157Arg and c.2143G > A, p.Glu715Lys in TARS2 and the variants were confirmed by Sanger sequencing. The patient was diagnosed with combined oxidative phosphorylation deficiency 21 according to the Online Mendelian Inheritance in Man (OMIM) database based on the clinical data and the deleterious effect of the two variants in TARS2 predicted by in silico tools. CONCLUSIONS: We presented one case diagnosed with combined oxidative phosphorylation deficiency 21 based on clinical characteristics and genetic analysis. This is the first case in China and the fourth case in the world based on our document retrieval. This study facilitates the understanding of combined oxidative phosphorylation deficiency disease and demonstrates that the next-generation sequencing has a high potential to study inherited disease with high phenotypic heterogeneity and genetic heterogeneity including mitochondrial diseases such as combined oxidative phosphorylation deficiency.

Exploring health and wellness among Native American adults with intellectual and/or developmental disabilities and their family caregivers.

BACKGROUND: Adults with intellectual and/or developmental disabilities (IDD) experience health inequities, and those who also identify as a member of an ethnic minority group face additional health inequities. In the United States, a majority of adults with IDD continue to be supported by family caregivers making their health equity also important. The purpose of this study was to explore how Native American adults with IDD and their family caregivers experience health and wellness. METHOD: This community-engaged research was guided by a Community Advisory Board (CAB) with study participants completing a Photovoice project. RESULTS: Participants identified individual, family and community level influences on health and wellness including the importance of participation in meaningful activities and connection to culture. CONCLUSIONS: In order to address health inequities, more research is needed to understand health and wellness from the unique perspectives of individuals with IDD and those from racial and ethnic minority groups.

Maternal postpartum stress and toddler developmental delays: Results from a multisite study of racially diverse families.

Maternal psychosocial stress during pregnancy can adversely influence child development, but few studies have investigated psychosocial stress during the postpartum period and its association with risk of toddler developmental delays. Moreover, given the expanding diversity of the U.S. population, and well-documented health and stress disparities for racial and ethnic minorities, research examining the effect of postpartum stress on risk of developmental delays in diverse populations is of critical importance. In this study, data from the Community Child Health Network provided the opportunity to test maternal postpartum stress as a predictor of toddler risk of developmental delay in a sample of African American, Latina and non-Hispanic White women and their toddlers (N = 1537) recruited in urban, suburban, and rural communities. Postpartum maternal stress over 1 year was operationalized as perceived stress, life events, and negative impact of life events. Regression results revealed higher risk of developmental delays in toddlers whose mothers experienced more negative life events, greater negative impact of events, and higher perceived stress over the year. Prenatal stress, pregnancy/birth complications, and postpartum depression did not explain these associations. Maternal postpartum stress may contribute to increased risk for developmental delays and is an important target for psychosocial intervention.

Providers' Guidance to Parents and Service Use for Latino Children With Developmental Disabilities.

To better understand disparities between Latino and White children with autism or other developmental disabilities (ASD/DD), we examined whether Latino ethnicity predicted the number of specialty care services received by children with severe functional limitations depending on medical providers' responses to parents' initial concerns about their child's development. Through linkage of the Pathways and NS-CSHCN datasets, we found ethnic disparities in the receipt of specialty services associated with providers' responsiveness to parent-reported concerns among children with ASD/DD. Among children with significant functional limitations, Latino children whose parents received passive/reassuring responses from their providers were less likely to receive specialty services than White children with ASD/DD. Providers' guidance to parents may be a promising point of intervention for future disparity reduction efforts.

Demographic and psychosocial factors associated with hair cortisol concentrations in preschool children.

BACKGROUND: Early life stress has enduring effects on physical and mental health. Hair cortisol concentrations (HCCs) reflect exposures to contextual stressors in early life, but are understudied in preschool children. METHODS: Hair samples from children (N = 693) during clinic visits (CVs) scheduled at 1-4 years (CV1-CV4) were measured using validated assay methods for HCC. RESULTS: HCCs were highest at CV1 and decreased at CV2-CV4, with no sex differences. Black children had higher HCC than White/other children; these differences persisted even after adjusting for socioeconomic factors. Bivariable analyses showed significant effects on HCC for Black race, with specific demographic and psychosocial factors at different ages. Multivariable analyses showed that higher HCC at CV1 were associated with Black race and male sex; at CV2 with Black race, lower maternal self-esteem, socioeconomic adversity, and the child's risk for developmental delay; at CV3 with Black race; at CV4 with maternal depression and the child's prior HCC values. CONCLUSIONS: HCCs were higher in Black children than White/other races; differences were related to maternal factors, socioeconomic adversity, and the child's risk for developmental delay. Public health measures to reduce disparities between Blacks and other races must also consider the long-term effects of chronic stress in early life.

Race/Ethnicity-Resolved Time Trends in United States ASD Prevalence Estimates from IDEA and ADDM.

Race-specific time trends in Autism Spectrum Disorder prevalence are tracked among 3-5 year-olds and 8 year-olds identified by the U.S. Individuals with Disabilities Education Act (IDEA) and the Autism and Developmental Disabilities Monitoring (ADDM) Network, respectively. White ASD prevalence historically has been higher than other racial groups but plateaued for IDEA birth cohorts from ~ 2004 to 2007 before resuming its increase. Black and Hispanic IDEA prevalence increased continuously and caught up to whites by birth year ~ 2008 and ~ 2013, respectively, with black prevalence subsequently exceeding white prevalence in the majority of states. Plateaus in white prevalence occurred in some ADDM states for birth years 2002-2006, but IDEA trends suggest prevalence will increase across all racial groups in ADDM's birth year 2008 report.

Factors Influencing Low Prevalence of Neurodevelopmental Disabilities Among US Hispanic/Latino Children.

OBJECTIVES: Hispanic/Latino (H/L) children have lower prevalence of neurodevelopmental disabilities (NDD) than other groups. The explanations for this are complex, but may be related to nativity, language barriers, and lack of access to and utilization of healthcare. Previous research focused on how these factors affect children with NDD, but little research has jointly examined whether these factors predict NDD. This study examines whether social and environmental factors explain low prevalence of NDD in this population. METHODS: This study uses nationally representative Integrated Public Use Microdata Series National Health Interview Survey data (N = 200,622) and multivariate logistic regression analysis to compare NDD prevalence in white and H/L children (average age of 10.2), and examines whether nativity, healthcare access, healthcare utilization, and language barriers explain this disability disparity. RESULTS: Findings reveal that the H/L NDD disparity is not explained by differences in access to or utilization of healthcare, or as a result of language differences that may create barriers to NDD diagnosis. While H/L children whose sampled adult was born in the USA have lower rates of NDD than whites, H/Ls whose sampled adult were not born in the USA have even lower probability of NDD than H/Ls who were born in the USA. CONCLUSIONS: These findings may be a result of cultural differences in knowledge or understanding of what constitutes a disability or the result of differential treatment within the healthcare system among H/Ls. The findings underscore the importance of accessible and culturally appropriate health and clinical care interventions among H/L communities.

Racial and Ethnic Disparities in Autism-Related Health and Educational Services.

OBJECTIVE: The objective of this study is to measure racial and ethnic disparities in autism-related services among U.S. children with parent-reported autism spectrum disorder (ASD). METHODS: Using the 2011 Survey of Pathways to Diagnosis and Services, we analyzed parent-reported data on 1420 children with current ASD in the nationally representative sample. An estimation method consistent with the Institute of Medicine's definition of health care disparities is used to measure racial and ethnic disparities. RESULTS: The findings revealed Latino-white disparities in the percentage of children currently using school-based occupational and physical therapy and Latino-white and "other race"-white disparities in the percentage of children using physical therapy outside of school. There were no statistically significant black-white disparities. Instead, the study found that the percentage of black children with ASD receiving school-based services was 8 points higher than that of white children (p < 0.04). Factors unrelated to the need for autism services were largely unassociated with the receipt of services. CONCLUSION: The findings provide a partial baseline and identify a need for further examination of the source of existing disparities and the lack of disparities found for specific services and minority groups.

Stimulation and Early Child Development in China: Caregiving at Arm's Length.

OBJECTIVE: To provide an empirical overview of the parenting landscape in rural China, focusing on 18- to 30-month-old children and their caregivers in rural Shaanxi province. METHODS: We collected unique data on 1442 caregiver-toddler dyads in rural areas of Shaanxi province and examined caregiver attitudes toward parenting, sources of information about parenting, and interactive parenting practices, and how each of these differed across generations. We measured how parenting attitudes and sources of information informed parenting practices. Finally, we measured levels of child development in our sample and the association between parenting practices and children's developmental outcomes. RESULTS: Most of the caregivers did not engage with children in a way that encouraged early development. Caregivers rarely told stories, sang, or used toys to play with their children. Grandmothers were more stressed by the children in their care and engaged significantly less than mothers did in the 3 stimulating interactions. Professional sources of information about parenting were underutilized by all caregivers. We found high rates of developmental delay in our sample and showed that these delays were associated with the lack of caregiver engagement. CONCLUSION: Our findings suggest that the major economic and social shifts occurring in rural China have not led to a widespread prevalence of stimulative parenting practices. Although caregivers report positive attitudes toward child-rearing, reliable sources of scientific information are lacking. Our results show a troubling generational disconnect between the information-seeking behaviors and parenting practices of rural caregivers.

Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency.

BACKGROUND: Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessively-inherited defect of γ-aminobutyric acid (GABA) metabolism. The absence of SSADH, which is encoded by aldehyde dehydrogenase family 5 member A1 (ALDH5A1) gene, leads to the accumulation of GABA and γ-hydroxybutyric acid (GHB). Few cases with SSADH deficiency were reported in China. CASE PRESENTATION: In this study, four Chinese patients were diagnosed with SSADH deficiency in Tianjin Children's Hospital. We conducted a multidimensional analysis with magnetic resonance imaging (MRI) of the head, semi quantitative detection of urine organic acid using gas chromatography-mass spectrometry, and analysis of ALDH5A1 gene mutations. Two of the patients were admitted to the hospital due to convulsions, and all patients were associated with developmental delay. Cerebral MRI showed symmetrical hyperintense signal of bilateral globus pallidus and basal ganglia in patient 1; hyperintensity of bilateral frontal-parietal lobe, widened ventricle and sulci in patient 2; and widened ventricle and sulci in patient 4. Electroencephalogram (EEG) revealed the background activity of epilepsy in patient 1 and the disappearance of sleep spindle in patient 2. Urine organic acid analysis revealed elevated GHB in all the patients. Mutational analysis, which was performed by sequencing the 10 exons and flanking the intronic regions of ALDH5A1 gene for all the patients, revealed mutations at five sites. Two cases had homozygous mutations with c.1529C > T and c.800 T > G respectively, whereas the remaining two had different compound heterozygous mutations including c.527G > A/c.691G > A and c.1344-2delA/c.1529C > T. Although these four mutations have been described previously, the homozygous mutation of c.800 T > G in ALDH5A1 gene is a novel discovery. CONCLUSION: SSADH deficiency is diagnosed based on the elevated GHB and 4, 5DHHA by urinary organic acid analysis. We describe a novel mutation p.V267G (c.800 T > G) located in the NAD binding domain, which is possibly crucial for this disease's severity. Our study expands the mutation spectrum of ALDH5A1 and highlights the importance of molecular genetic evaluation in patients with SSADH deficiency.

Prevalence, Health and Resource Utilization, and Unmet Healthcare Needs of Native Hawaiian and Pacific Islander Children With Developmental Disabilities.

Little is known about health limitations and service utilization among the Native Hawaiian and Pacific Islander (NHPI) children with developmental disabilities (DDs) due to limited data. Our study examined the prevalence of DDs, health limitations, services used, and the unmet needs of NHPI children aged 3 to 17 years using cross-sectional data from the 2014 NHPI National Health Interview Survey. Results showed that prevalence of DDs among NHPI children was lower than American children of other races. DDs were negatively associated with health and functioning of NHPI children. There is a need to promote understanding of DDs among NHPI families and to inform public policy makers to identify appropriate intervention services for NHPI children.

The relationship between stress and stigma, somatization and parental self-efficacy among fathers of adolescents with developmental disabilities in the Bedouin community in Israel.

BACKGROUND: Although children across the world experience Developmental Disabilities, most research on DD has been conducted using Western cultural perspectives and has primarily focused on mothers, leaving significant gaps in the literature. This study intends to fill some of these gaps by exploring and gaining an understanding of the experiences of fathers raising children with DD. Thus, the aim of this study was: to examine whether stigma, somatization, and parental self-efficacy were associated with stress among Bedouin fathers of adolescents with DD. Besides, the relationship between somatization and stress was examined in this study, as it is mediated by the sense of stigma, as well as the intensity of the mediation of the knowledge of shame, between paternal self-efficacy and stress. METHODOLOGY: Notably, ninety Bedouin fathers of adolescents with DD completed five questionnaires. These questionnaires included demographic, stigma, parental self-efficacy, and stress and somatization questionnaires. RESULTS: Significantly, the study findings indicate significant negative relationships between general stress and parental self-efficacy, parental and economic stress and parental self-efficacy, and sense of stigma and parental self-efficacy. Also, the findings indicate significant positive relationships between stigma and anxiety, fear and somatization, and stigma and somatization. CONCLUSIONS: Arguably, concerning the findings of the study, intervention programs that are culturally tailored and that concern cognitive-behavioral foundations are recommended to help fathers cope with their sense of stigma. Further, the intervention programs help to deal with stress and somatization and to increase their understanding of parental self-efficacy in raising their child. Therefore, these cultural intervention programs should take into account the individual and his extended family, and place of the family in his life, considering the cultural values and the honor of the family. Further, the programs should take into account the centrality of religion and an awareness of the impact of the social hierarchy and the status of the fathers in the community and on the child with disabilities. In essence, these areas are focal points of power that can assist in providing solutions for the intervention program. Also, it is essential to refer to the living and economic conditions of this community.

Child Developmental Disabilities, Caregivers' Role in Kenya and Its Implications on Global Migration.

Background: This paper is a summary of the findings from an ethnographic study on child developmental disabilities conducted partly in Nairobi and Kiambu Counties in Kenya. Methods: Quantitative and qualitative data collection methods were applied for the period between mid August and mid November 2018. The study was conducted through the Kenya Institute of Special Education (KISE) situated in Nairobi County. Results: There are parents who are willing to migrate in search of better education and healthcare options for their children who have developmental disabilities (DDs). However, there are also government reforms taking place in the field of disability that may help to support the caregiving role for children with special needs. The challenges, bargaining position and power play between parents or guardians and other actors implicated in the debates on inclusion and integration of persons with developmental disabilities in Kenya has been brought to the forefront. Conclusions: In Kenya, more needs to be done to change the attitude towards disability from the medical and moral (religious/cultural) models to an approach leaning towards the social model, so that developmental disabilities are not viewed negatively.

Latino parents' links to deportees are associated with developmental disorders in their children.

AIMS: To examine how Latino parent's personal connection to immigrants is linked to their children's risk of being referred/diagnosed with a developmental disorder. METHODS: Using the 2015 Latino National Health and Immigration Survey (n = 548), we asked adults about their connections to immigrants. We also asked if their child has been referred/diagnosed with a developmental disorder. We estimated a series of regressions to predict increases in the probability of a child being referred/diagnosed for a developmental disorder. RESULTS: Respondents who know a deportee are 2.4 times more likely (p = 0.009) to report that their child has been referred or diagnosed with a developmental disorder. Additionally, knowing more deportees, and having a closer family tie with deportees, are all statistically associated with developmental problems. CONCLUSIONS: This study adds to the emerging research on stress and child health, by examining the intersections of immigration policy, mental health, and child development.

Timing and Intensity of Early Intervention Service Use and Outcomes Among a Safety-Net Population of Children.

Importance: Federal per-child early intervention (EI) appropriations have declined, while accountability for improving children's development and function has increased. It is critical to understand high-value EI services and systems. Objective: To examine EI service timeliness and intensity, and the association between service intensity and outcomes. Design, Setting, and Participants: This secondary data analysis cohort study linked pediatric primary care electronic health records and EI program records from October 1, 2014, to September 30, 2016. Sample children from a large, urban safety-net health system and EI program who were younger than 35 months with a developmental disability or delay were examined. Data analysis was conducted from December 15, 2017, to May 15, 2018. Exposures: The study included measures of condition type and severity, race and ethnicity, family income, insurance type, sex, birth weight, and language. Main Outcomes and Measures: The timeliness of EI (days from referral to EI care plan), service intensity (hours per month) overall and for core EI services (physical, occupational, speech therapy, and developmental intervention), and change in function (measured on a 13-point scale). Adjusted quantile median regression estimated timeliness and intensity. Adjusted linear regression estimated change in function. Results: Of the 722 children who received an EI care plan (median [interquartile range] time to receive EI care plan, 56.0 [1.0-111.0] days) 457 (63.3%) were male, 447 (62.0%) were younger than 12 months, 207 (28.7%) were 12 to 24 months, and 68 (9.3%) were 25 to 35 months. A total of 663 children (91.8%) had a household income of less than $20 000 annually; 305 (43%) of the sample children received an EI care plan within the 45-day deadline. Median (interquartile range) for EI intensity was 2.7 (2.3-3.6) hours per month. Children living above the federal poverty threshold received greater occupational therapy intensity (b, 1.9; 95% CI, 0.9-3.0). Greater clinical severity was associated with more timely receipt of an EI care plan. Compared with infants, 2-year-old children received a care plan almost 2 months sooner (b, -52.0; 95% CI, -79.7 to -24.3). An additional hour per month of EI service was associated with a 3-point functional gain (b, 3.0; 95% CI, 1.5-5.9) among children with complete outcomes information (n = 448). Conclusions and Relevance: In this study, greater EI service intensity was associated with better functional gains, yet most children in the study received delayed care and/or low service intensity. Clinical and EI record linkages could serve as a framework for improving EI processes.

Understanding and awareness of autism among Somali parents living in the United Kingdom.

Using vignettes and interviews, this study examined understanding and awareness of autism, and (a)typical development more broadly, among 32 Somali parents living in the United Kingdom. Results demonstrated that parents of both autistic (n = 16) and non-autistic (n = 16) children were just as likely to identify vignettes of typically developing children, yet parents of autistic children appeared more astute to signs of atypical development. Across the whole sample, parents commonly identified and labelled vignettes of autistic children, but experienced more difficulty labelling vignettes that described children with other forms of atypical development, sometimes mislabeling these children as autistic. This suggests that there is a need for greater support in recognising and identifying different types of atypical development in the Somali community (to mitigate the risk that the term 'autism' may take on its own meaning within the Somali community, becoming a euphemism for a range of developmental conditions). Analysis of interview data identified key sociocultural factors that either helped or hindered the inclusion of families with autistic children within the community, including the Somali community's: (1) perceptions of disability, (2) beliefs about the causes of autism in the Western world and (3) strong reliance on religious beliefs in understanding and accepting an autism diagnosis.

Racial and ethnic disparities in birth outcomes and labour and delivery-related charges among women with intellectual and developmental disabilities.

BACKGROUND: Women with intellectual and developmental disabilities (IDD) in the USA are bearing children at increasing rates. However, very little is known whether racial and ethnic disparities in birth outcomes and labour and delivery-related charges exist in this population. This study investigated racial and ethnic disparities in birth outcomes and labour and delivery-related charges among women with IDD. METHODS: The study employed secondary analysis of the 2004-2011 Healthcare Cost and Utilization Project National Inpatient Sample, the largest all-payer, publicly available US inpatient healthcare database. Hierarchical mixed-effect logistic and linear regression models were used to compare the study outcomes. RESULTS: We identified 2110 delivery-associated hospitalisations among women with IDD including 1275 among non-Hispanic White women, 527 among non-Hispanic Black women and 308 among Hispanic women. We found significant disparities in stillbirth among non-Hispanic Black and Hispanic women with IDD compared with their non-Hispanic White peers [odds ratio = 2.50, 95% confidence interval (CI): 1.16-5.28, P < 0.01 and odds ratio = 2.53, 95% CI: 1.08-5.92, P < 0.01, respectively]. There were no racial and ethnic disparities in caesarean delivery, preterm birth and small-for-gestational-age neonates among women with IDD. The average labour and delivery-related charges for non-Hispanic Black and Hispanic Women with IDD ($18 889 and $22 481, respectively) exceeded those for non-Hispanic White women with IDD ($14 886) by $4003 and $7595 or by 27% and 51%, respectively. The significant racial and ethnic differences in charges persisted even after controlling for a range of individual-level and institutional-level characteristics and were 6% (ln(ß) = 0.06, 95% CI: 0.01-0.11, P < 0.05) and 9% (ln(ß) = 0.09, 95% CI: 0.03-0.14, P < 0.01) higher for non-Hispanic Black and Hispanic Women with IDD compared with non-Hispanic White women with IDD. CONCLUSIONS: Our findings highlight the need for an integrated approach to the delivery of comprehensive perinatal services for racial and ethnic minority women with IDD to reduce their risk of having a stillbirth. Additionally, further research is needed to examine the causes of racial and ethnic disparities in hospital charges for labour and delivery admission among women with IDD and ascertain whether price discrimination exists based on patients' racial or ethnic identities.

Age-specific risk factors associated with placement instability among foster children.

Placement instability places foster children at an increased risk of negative developmental outcomes. Previous research has yielded inconsistent results on risk factors for placement instability. Therefore, we investigated two research questions: (1) Which child attributes and case histories are associated with placement disruptions (moves indicative of child, agency or caregiver dissatisfaction with the existing placement)?; and (2) How do associations of child attributes and case histories with placement disruptions vary by developmental stage --early childhood (0-5 years), middle childhood (6-12 years), and adolescence (13 years or older)? Using a complete entry cohort of 23,765 foster children in Texas, our results demonstrated that the effects of different risk factors varied by placement end reason and across developmental stages. Of note, kinship placement, compared to non-relative foster care, and placement with all siblings were each associated with an increased risk of substandard care disruptions. Placements with females or Hispanic children were at an increased risk of child-initiated disruption, whereas placements with Black children were more likely to end due to placement mismatch or substandard care reasons. Finally, the adolescence age group was always associated with the greatest increase in risk regardless of disruption reason. These findings provide researchers, caseworkers, and policymakers important information on the risk factors for placement instability among children in foster care.

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.

PURPOSE: The present study aimed to investigate chromosomal microarray (CMA) and clinical data in patients with unexplained developmental delay/intellectual disability (DD/ID) accompanying dysmorphism, congenital anomalies, or epilepsy. We also aimed to evaluate phenotypic clues in patients with pathogenic copy number variants (CNVs). MATERIALS AND METHODS: We collected clinical and CMA data from patients at Konyang University Hospital between September 2013 and October 2014. We included patients who had taken the CMA test to evaluate the etiology of unexplained DD/ID. RESULTS: All of the 50 patients identified had DD/ID. Thirty-nine patients had dysmorphism, 19 patients suffered from epilepsy, and 12 patients had congenital anomalies. Twenty-nine of the 50 patients (58%) showed abnormal results. Eighteen (36%) were considered to have pathogenic CNVs. Dysmorphism (p=0.028) was significantly higher in patients with pathogenic CNVs than in those with normal CMA. Two or more clinical features were presented by 61.9% (13/21) of the patients with normal CMA and by 83.3% (15/18) of the patients with pathogenic CMA. CONCLUSION: Dysmorphism can be a phenotypic clue to pathogenic CNVs. Furthermore, pathogenic CNV might be more frequently found if patients have two or more clinical features in addition to DD/ID.