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.

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.

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.

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.

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.

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.

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.

Gestational Age and Child Development at Age Five in a Population-Based Cohort of Australian Aboriginal and Non-Aboriginal Children.

BACKGROUND: Preterm birth and developmental vulnerability are more common in Australian Aboriginal compared with non-Aboriginal children. We quantified how gestational age relates to developmental vulnerability in both populations. METHODS: Perinatal datasets were linked to the Australian Early Development Census (AEDC), which collects data on five domains, including physical, social, emotional, language/cognitive, and general knowledge/communication development. We quantified the risk of developmental vulnerability on ≥1 domains at age 5, according to gestational age and Aboriginality, for 97 989 children born in New South Wales, Australia, who started school in 2009 or 2012. RESULTS: Seven thousand and seventy-nine children (7%) were Aboriginal. Compared with non-Aboriginal children, Aboriginal children were more likely to be preterm (5% vs. 9%), and developmentally vulnerable on ≥1 domains (20% vs. 36%). Overall, the proportion of developmentally vulnerable children decreased with increasing gestational age, from 44% at ≤27 weeks to 20% at 40 weeks. Aboriginal children had higher risks than non-Aboriginal children across the gestational age range, peaking among early term children (risk difference [RD] 19.0, 95% confidence interval [CI] 16.3, 21.7; relative risk [RR] 1.91, 95% CI 1.77, 2.06). The relation of gestational age to developmental outcomes was the same in Aboriginal and non-Aboriginal children, and adjustment for socio-economic disadvantage attenuated the risk differences and risk ratios across the gestational age range. CONCLUSIONS: Although the relation of gestational age to developmental vulnerability was similar in Aboriginal and non-Aboriginal children, Aboriginal children had a higher risk of developmental vulnerability at all gestational ages, which was largely accounted for by socio-economic disadvantage.

Maternal control and early child dysregulation: Moderating roles of ethnicity and child delay status.

BACKGROUND: Maternal controlling behaviour has been found to influence child development, particularly in behavioural and emotional regulation. Given the higher rates of interfering parent control found in mothers of children with developmental delays (DD) and Latina mothers, their children could be at increased risk for behavioural and emotional dysregulation. While studies generally support this increased risk for children with DD, findings for Latino children are mixed and often attributed to cultural models of child rearing. The present study sought to determine the moderating roles of child DD and mother ethnicity in determining the relationships between two types of parent control (supportive directiveness and interference) and child dysregulation over time. METHODS: The present study, involving 178 3-year old children with DD (n = 80) or typical development (n = 98), examined observed parent control (directive versus interfering) of Latina and Anglo mothers as it relates to change in preschool child dysregulation over 2 years. RESULTS: Interfering parent control was greater for children with DD and also for Latino mothers. Supportive directive parenting generally related to relatively greater decline in child behaviour and emotion dysregulation over time, while interfering parenting generally related to less decline in child behaviour dysregulation over time. In Anglo but not Latino families, these relationships tended to vary as a function of child disability. CONCLUSIONS: Parent directives that support, rather than deter, ongoing child activity may promote positive regulatory development. These results particularly hold for children with DD and Latino families, and have implications for parenting practices and intervention.

[Identification of ALDH5A1 gene mutations in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency].

OBJECTIVE: To detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency. METHODS: Genomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing. RESULTS: The proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c.398_399delAA (p.N134X) and c.638G>T (p.R213L), for which her parents were both heterozygous carriers. The same mutations were not found among the 100 healthy controls. CONCLUSION: The novel mutations of the ALDH5A1 gene probably underlie the pathogenesis of the disease in the infant, which also enriched the mutation spectrum of the ALDH5A1 gene.

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

BACKGROUND: Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits. METHODS: Clinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations. RESULTS: We identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the "friendly" demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population. CONCLUSION: We suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup.

The stories of 'snake children': killing and abuse of children with developmental disabilities in West Africa.

BACKGROUND: Killing and abuse of children with disabilities are covert phenomena, occurring in some developing regions, such as in some African countries. Similar to the practice of ritual killing of spirit children in Ghana, the phenomenon of the snake child in Cote d'Ivoire (known as Ivory Coast), is the ritual abandonment or killing of children with intellectual disability (ID). METHOD: This study is a qualitative ethnographic investigation into understanding this phenomenon. Three major questions were of interest: (1) Who are the snake children? (2) How are these children viewed and treated? (3) What are ways of changing negative attitudes towards children with developmental disabilities? RESULTS: The practices of killing, abandonment and abuse of children with disabilities take place in Cote d'Ivoire today, although the extent is not known. CONCLUSION: Killing and abuse of children with ID are explained within the context of indigenous African religions, animism and folk culture. The concept of disability 'otherness' and inferiority is also explored as a framework for reflection and ethical debate.

[Families with Migrant Backgrounds as Target Group of Early Interventions: Results of a Social Early Warning System in a Metropolitan Region]. / Familien mit Migrationshintergrund als Zielgruppe in den Frühen Hilfen: Ergebnisse eines Sozialen Frühwarnsystems einer Metropolregion.

OBJECTIVES: Families with migrant backgrounds (MB) are exposed to several psychosocial risk factors that increase the likelihood of impaired child development, in particular. QUESTIONS: We investigated whether families with MB differ from families without MB regarding their psychosocial stressors in the period of pregnancy and birth. METHOD: As part of a social early warning system in an obstetrics clinic in Germany n=502 families with MB were compared with n=349 families without MB with respect to the degree of stress and stress factors on the basis of an initial screening of risk factors for child maltreatment by a midwife or physician and a subsequent structured clearing interview by social education workers during the mothers' inpatient hospitalisation. RESULTS: For families without MB, a significantly higher total score was found in the risk screening (M=3,9 points vs. M=2,9 points) in comparison to families with MB. While families with MB compared to families without MB were faced more frequently by social stressors, e. g., financial problems or a difficult housing situation (81 vs. 37%), they were less frequently impacted by mental strain (27 vs. 48%), young fathers (2 vs. 10%) and maternal psychiatric diseases (3 vs. 17%), according to the risk screening. Socio-economic determinants such as social inclusion and living environment were found to be important factors influencing the psychosocial stress level of families. CONCLUSION: Explanations and implications for research and practice are discussed.

Race/ethnicity and the use of preventive health care among adults with intellectual and developmental disabilities.

BACKGROUND: Past research has been dedicated to documenting disparities in use of preventive health care faced by racial and ethnic minorities. In addition, studies have looked at the disparities in use of preventive health care experienced by individuals with intellectual and developmental disabilities (ID/DD). There is little known research that examines disparities in preventive health care use by individuals with ID/DD who identify as African American or Hispanic. OBJECTIVES: This study aimed to determine whether National Core Indicators data demonstrate racial and/or ethnic disparities in the use of preventive health care. Further, this study examined whether those racial and/or ethnic disparities in the use of preventive health care persisted when the analysis controlled for other demographic factors. METHODS: Data were derived from the 2011 to 2012 administration of the Adult Consumer Survey of the National Core Indicators Project. The association of race/ethnicity and preventive health care was assessed using binary logistic regression models. RESULTS: There seem to be differences in receipt of preventive care by race/ethnicity. However, most of these differences were not significant after other person-level factors were accounted for. CONCLUSIONS: Race/ethnicity may be less of a factor in accessing preventive care among adults with ID/DD receiving services than among the general population.

"We find a way": challenges and facilitators for health care access among immigrants and refugees with intellectual and developmental disabilities.

BACKGROUND: Immigrant and refugee populations and people with disabilities are known to have inequitable access to a range of health services. Very little study has been undertaken, however, about immigrants who have disabilities and their experience of the American health care system. RESEARCH DESIGN: This qualitative study seeks to discover the particular challenges that immigrants with disabilities face when accessing health care, and the facilitating factors that assist them in this process. A complex multicase study design was utilized, and included purposively sampled individuals from 3 different immigrant communities, having an array of developmental disabilities. Interviews and participant observation provided the data that were analyzed in NVivo9 using a conventional content analysis approach. RESULTS: Findings from this study suggest strong resilience among immigrant families with a member with a disability, as they continue to seek help despite experiencing confusion in navigating a complex health care system. Factors challenging access included difficulty finding accurate information on insurance and service providers, troubles with coordinating multiple specialist services, and a lack of cultural competence in all levels of health service provision. Access to health care services was facilitated by linguistically and culturally sensitive practitioners, favorable comparisons to the country or origin, and systems such as schools that helped to coordinate care. CONCLUSIONS: Much can be done to integrate and improve health services to immigrants with developmental disabilities. Emerging models such as medical home may assist with coordination, and improvements in communication patterns could help to improve service access and outcomes.

The Gudaga Study: development in 3-year-old urban Aboriginal children.

AIM: The aim of this analysis was to study and explore factors associated with the developmental progress in urban Aboriginal children at 3 years. METHODS: The Gudaga Study is a longitudinal birth cohort study of urban Aboriginal infants. The children were assessed using the Griffiths Mental Development Scales, Extended Revised (GMDS-ER) and the Peabody Picture Vocabulary Test, Fourth Edition (PPVT-IV). Student's t-tests and multiple linear regression analysis were used to test the association between developmental progress and possible risk factors. RESULTS: Overall, the mean general quotient (GQ) for Gudaga children was significantly lower than the standardised norm (P < 0.001). In the GMDS-ER subscales, the scores were higher than expected in the locomotor (P = 0.002) and personal-social domains (P = 0.002) and lower than expected for language (P < 0.001), eye and hand coordination (P < 0.001), performance (P < 0.001) and practical reasoning (P < 0.001). Multiple regression analysis showed that maternal age (P = 0.02) and single-mother status (P = 0.04) were significantly associated with lower performance on the GMDS-ER. The GQ was inversely proportional to the number of risk factors present (P = 0.001). The mean score of the PPVT-IV was also lower than the PPVT-IV norms (P < 0.001). CONCLUSION: At 3 years, urban Aboriginal children show relative strengths in their locomotor and self-care skills and emerging delays in their language, fine motor and performance skills. Slower developmental progress was more likely in the context of young maternal age and single parenthood.

Chronic conditions, functional difficulties, and disease burden among American Indian/Alaska Native children with special health care needs, 2009-2010.

The purpose of this study was to determine the prevalence of chronic conditions and functional difficulties of American Indian/Alaska Native (AIAN) children with special health care needs (CSHCN). We conducted bivariate and multivariable analysis of cross-sectional data on 40,202 children from the 2009-2010 National Survey of Children with Special Health Care Needs aged birth through 17 years, including 1,051 AIAN CSHCN. The prevalence of AIAN CSHCN was 15.7 %, not significantly different from the prevalence of US white CSHCN (16.3 %). As qualifiers for special needs status among AIAN children the use of or need for prescription medication was the most frequent (70 %), compared to the lower rates of need for elevated service use (44 %) and emotional, mental, or behavioral treatment/counseling (36 %). Asthma (45 %), conduct disorder (18 %), developmental delay (27 %), and migraine headaches (16 %) were significantly more common chronic conditions among AIAN CSHCN compared to white CSHCN, as were functional difficulties with respiration (52 %), communication (42 %), anxiety/depression (57 %), and behavior (54 %). AIAN CSHCN were also more likely to have 3 or more chronic conditions (39 vs. 28 %, respectively) and 3 or more functional difficulties (70 vs. 55 %, respectively) than white CSHCN. Results indicated a greater impact on the daily activities of AIAN CSHCN compared to white CSHCN (74 vs. 63 %). Significantly greater disease burden among AIAN CSHCN suggests that care must be taken to ensure an appropriate level of coordinated care in a medical home to ameliorate the severity and complexity of their conditions.

Family Involvement During Comprehensive Developmental Evaluations: Perspectives of Diverse Mothers.

OBJECTIVE: Early diagnosis and social support postdiagnosis (i.e., family involvement) can lead to improved outcomes for children with autism spectrum disorder (ASD) and other developmental disorders. Children of minority ethnic and racial groups are typically diagnosed later in childhood compared with White children, contributing to disparities in outcomes. Research has not yet explored family involvement during comprehensive developmental evaluations nor accounted for cross-cultural differences in family roles and involvement. This qualitative study sought to characterize the nature and impact of family involvement during the developmental evaluation process among racially and ethnically marginalized mothers of children with developmental delays and possible ASD. METHODS: Mothers (N = 27) of children who had a positive autism screen during their 18- or 24-month well-child visit but did not receive an ASD diagnosis after comprehensive developmental evaluation participated in individual semi-structured interviews exploring experiences with developmental screening, related services, and family involvement/social support. Qualitative data were transcribed, coded, and analyzed using applied thematic analysis. Data were stratified by partner status (i.e., partnered vs. nonpartnered) to examine differences in support and family involvement across varying family compositions. RESULTS: Three qualitative themes emerged: (1) mothers sought family involvement when making decisions about pursuing developmental evaluations, (2) family involvement affected mothers' navigation of logistical challenges, and (3) mothers involved family members for emotional support. Differences by partner status emerged in themes 1 and 2. CONCLUSION: Findings highlight benefits of and potential approaches to harnessing family involvement to support parents' navigation of the developmental evaluation process and ultimately improve child outcomes.

Epidemiology and clinical characteristics of congenital hypothyroidism in an Asian population: a nationwide population-based study.

BACKGROUND: The incidence of congenital hypothyroidism (CH) has been increasing in Western countries, and some populations, including Asians, have a higher incidence. Delayed diagnosis and early treatment influence the outcome of CH. We investigated the incidence and clinical characteristics of CH in Taiwan. METHODS: In this retrospective database study we identified cases of CH diagnosed during 1997-2008 in the Taiwan National Health Insurance Research Database (NHIRD). Patients who had a Serious Accidents and Diseases certificate were included in the incidence calculation. We focused on CH patients who were born during 1997-2003 and determined their age at diagnosis and CH-related clinical features. Mental retardation and physiological delays were evaluated with respect to age at diagnosis. RESULTS: A total of 1482 cases were identified. Incidence during the 12-year period was 5.02 per 10 000 births. Among 1115 patients, the most common clinical features of CH were developmental delay (9.6%), constipation (11.6%), and delayed physiological development (9.1%). Congenital anomalies of the heart (7.7%), epilepsy (2.7%), and infantile cerebral palsy (3.2%) were also noted. Survival analysis showed that the risks of mental retardation (hazard ratio [HR], 3.180) and delayed physiological development (HR, 1.908) were greater when age at diagnosis was greater than 1 year. CONCLUSIONS: CH incidence was higher in Taiwan than in Western countries. Early diagnosis may decrease the risk of mental and physiological delay.