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Background and Objectives: Latino-white disparities in age at autism spectrum disorder (ASD) diagnosis may be modified by primary care pediatrician (PCP) practices and beliefs. The objectives of this study were to assess ASD and developmental screening practices, attitudes toward ASD identification in Latino children, and barriers to ASD identification for Latino children, in a sample of 267 California PCPs., Methods: In mail-based PCP survey, we assessed rates of bilingual general developmental and ASD screening, perceptions of parent ASD knowledge in Latino and white families, reports of difficulty assessing for ASDs in Latino and white children, and perceptions of barriers to early ASD identification for Latinos., Results: Although 81% of PCPs offered some form of developmental screening, 29% of PCPs offered Spanish ASD screening per American Academy of Pediatrics guidelines, and only 10% offered both Spanish general developmental and Spanish ASD screening per American Academy of Pediatrics guidelines. Most PCPs thought that Latino (English and Spanish primary family language) parents were less knowledgeable about ASDs than white parents. PCPs had more difficulty assessing ASD risk for Latino children with Spanish primary family language than for white children, even when the PCP conducted recommended ASD screening or had >25% Latino patients. The most frequent barrier to ASD identification in Latinos was access to developmental specialists., Conclusions: Multiple factors in the primary care setting may contribute to delayed ASD identification for Latinos. Promoting language-appropriate screening, disseminating culturally appropriate ASD materials to Latino families, improving the specialist workforce, and providing PCP support in screening and referral of Latino children may be important ways to reduce racial and ethnic differences in care.

Background: Few studies have examined the relationship between sociodemographic factors and a population-based measure of developmental delay in US children. We identify sociodemographic factors associated with unlikely, probable and possible developmental delay in preschool US children using nationally representative data., Methods: All children aged 18 months to 5 years in the 2007 National Survey of Children's Health were categorised into three groups based on the likelihood of developmental delay (unlikely delay, possible delay and probable delay) using a modified survey version of the Parents' Evaluation of Developmental Status questionnaire. Bivariate and multivariate multinomial logistic regressions were used to assess relations between sociodemographic variables and risk of developmental delay., Results: Children had increased odds of probable delay (compared with unlikely delay) if they were older (adjusted OR (aOR)=1.41/additional year above the youngest age group (18 months-2 years), p<0.001), male (aOR=1.55, p<0.001), low birth weight (aOR=2.08, p<0.001), non-Hispanic black (aOR=1.50, p<0.01) or Hispanic in a non-English-speaking household (aOR=2.53, p<0.001) versus non-Hispanic white, had lower household income (aOR=1.33 for each decreasing category of poverty level, p<0.001), or received >10 h/week of care at another family's home (aOR=1.71, p<0.05). Only four characteristics (being older, male, low birth weight and Hispanic living in a non-English-speaking household) were associated with increased odds of possible delay compared with unlikely delay., Conclusions: Multiple factors, including demographic characteristics and indicators of social disadvantage, distinguish children with probable developmental delay from those unlikely to have developmental delay. Fewer factors identify children with possible delay.

The present study aimed to evaluate the reliability and validity of the cognitive sub-test of the Preschool Developmental Assessment Scale (PDAS) for Hong Kong Chinese children. Participants included 378 children (189 boys and 189 girls) aged 3-6 years old, with 324 children with typical development and 54 children with developmental disabilities. They were administered the cognitive sub-test of the PDAS and the Wechsler Preschool and Primary Scale of Intelligence - Revised (WPPSI-R). The PDAS cognitive sub-test total scores correlated positively with the WPPSI-R scores. It could differentiate children from different age groups, with younger children attaining significantly lower scores than older children. The sub-test could also differentiate children with typical development from those with developmental disabilities, with the latter attaining significantly lower scores. The sensitivity and specificity were around 80%. Internal consistency (KR-20) was .93 and test-retest reliability was .81. The cognitive sub-test of the PDAS was found to be a promising screening tool for the identification of preschool children with developmental disabilities., (Copyright © 2013 Elsevier Ltd. All rights reserved.)

Objective: Validate a tool to determine neurodevelopmental impairments (NDIs) in >2- to 5-year-old children in a country with limited child development expertise., Methods: Rapid Neurodevelopmental Assessment (RNDA) is a tool designed to detect functional status and NDIs across multiple neurodevelopmental domains. Validity was determined in 77 children enrolled by door-to-door sampling in Dhaka and who were administered the RNDA by 1 of 6 testers (4 developmental therapists, 2 special education teachers) and simultaneously administered a test of adaptive behavior (AB; Independent Behavior Assessment Scale) and intelligence quotient (IQ) tests (Bayley Scales of Infant Development II, Stanford Binet Intelligence Scale, Wechsler Preschool and Primary Scales of Intelligence) by psychologists., Results: Interrater reliability ranged from good to excellent. There were significant differences in AB in mean percentile scores on the Independent Behavior Assessment Scale for motor (P = .0001), socialization (P = .001), communication (P = .001), and full-scale (P = .001) scores in children with ≥1 NDI ("any NDI") versus no NDI. Significant differences in those with versus those without "any NDI" were found on IQ scores. Sensitivity and specificity for "significant difficulties" (defined as AB z-scores < -2 SDs and/or IQ <70) and "mild difficulties included" (AB z-scores < -1SD and/or IQ <85) were 90% and 60% and 80% and 76%, respectively., Conclusions: The RNDA validity results are promising for use by child care professionals in field and clinical settings, but the tool needs further replication and refinement for assessment of specific impairments of vision, hearing, and seizures.

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.

This study assessed whether previous findings linking early maternal employment to lower cognitive and behavioral skills among middle-class and White children generalized to other groups. Using a representative sample of urban, low-income, predominantly African American and Hispanic families (n = 444), ordinary least squares regression and propensity score matching models assessed links between maternal employment in the 2 years after childbearing and children's functioning at age 7. Children whose mothers were employed early, particularly in their first 8 months, showed enhanced socioemotional functioning compared to peers whose mothers remained nonemployed. Protective associations emerged for both part-time and full-time employment, and were driven by African American children, with neutral effects for Hispanics. Informal home-based child care also heightened positive links., (© 2012 The Authors. Child Development © 2012 Society for Research in Child Development, Inc.)

Objective: To translate, adapt, and evaluate the applicability of the perceived efficacy and goal setting system (PEGS) for use in Sweden., Method: Based on guidelines for cross-cultural adaptation of self-reports, the study was performed in several phases involving (i) translation and back-translation, (ii) pre-testing of the translated version, (iii) development of adjusted items and, finally, (iv) field testing of the proposed Swedish version. Participants were 63 parent-child dyads recruited through convenience sampling by 19 therapists., Results: Overall, five items in the original PEGS required adaptation, and one new item was added. Using the Swedish version of the PEGS, both children and parents were able to identify individual strengths and weaknesses in the child's performance of daily tasks as well as to select goals for intervention., Conclusions: The Swedish version of the PEGS thus showed evidence of validity based on test content and was applicable for use with children enrolled in paediatric rehabilitation who had a variety of disabilities and who were between five and 12 years of age.

This study aimed to investigate the concurrent validity of the parent-report Taiwan Birth Cohort Study Developmental Instrument (TBCS-DI) with the Bayley Scales of Infant Development-Second Edition (BSID-II) and the Wechsler Preschool and Primary Scale of Intelligence-Revised (WPPSI-R) at 6, 18, 36, and 60 months. 100 children were recruited at 6 months, 88 children followed-up at 18 months, 71 at 36 months, and 53 at 60 months. Longitudinally, the parent-report TBCS-DI, with the professional psychological assessments of the BSID-II and the WPPSI-R showed predictive validity. Looking at each time point in cross section, at 6 and 18 months the TBCS-DI had good concurrent validity with the BSID-II, and at 36 and 60 months the TBCS-DI was correlated only with the motor and performance domains of the BSID-II and WPPSI-R. With further investigation, the TBCS-DI may be used both in research and in clinical settings.

Objectives: To compare differences in autism between Hispanic and non-Hispanics. We also examined the relationship between multiple language exposure and language function and scores of children., Methods: The Childhood Autism Risks from Genetics and the Environment (CHARGE) study is an ongoing population-based case-control study with children sampled (n=1061) from three strata: those with autism (AU) or autism spectrum disorder (ASD); developmental delay (DD); or the general population (GP)., Results: Non-Hispanic cases demonstrated higher cognitive composite scores for the Mullen Scales of Early Learning (MSEL). There were significant associations between multiple language exposure and MSEL subscales for receptive language and expressive language, in both cases (AU/ASD) and TD controls, but not DD controls. Results of multivariate regression analyses suggest several predictors to be associated with lower Mullen expressive language scores including: diagnosis of ASD/AU, speaking to the child in a second language 25-50% of the time and Hispanic ethnicity; while maternal college education was associated with higher scores., Conclusion: Overall, the CHARGE Hispanic group displayed more similarities than differences compared to non-Hispanics in terms of autistic phenotypes and maladaptive & adaptive scores for cases. The relationship between multiple language use and cognitive scores warrants a closer look.

Objective: This qualitative study explored the experiences of Latino siblings of children with developmental disabilities., Methods: Parents and typically developing siblings from 15 Latino families with a child with a developmental disability participated in separate interviews., Results: Using consensual qualitative research methodology, domains reflecting siblings' relationships, emotional experiences and communication about the disability were identified. The child's need for caregiving was a prominent topic in the sibling and parent narratives. Parents reported concerns about siblings' experience of differential treatment, whereas siblings reported concerns about restricted social activities because of their brother/sister., Conclusions: Including multiple informants revealed commonalities and differences in parents' and siblings' perspectives on the impact of a child's disability. The importance of considering sibling adaptation in sociocultural context is discussed., (© 2011 Blackwell Publishing Ltd.)

Background: Social gradients and ethnic disparities have been reported in some forms of intellectual and developmental disabilities. However, information on the association between area deprivation, ethnicity and other forms of intellectual and developmental disabilities are inconclusive., Aim: To estimate the independent association between household disadvantage, local area deprivation, ethnicity and the identification of intellectual and developmental disability., Methods: Cross-sectional survey involving multilevel multivariate analyses of data extracted from educational records on household disadvantage, local area deprivation, ethnicity and identified intellectual and developmental disability in a sample of English children aged 7-15 years (n=5.18 million)., Results: Lower household socio-economic position was associated with increased rates of identification of intellectual and developmental disabilities especially less severe forms of intellectual disability. Higher area deprivation was independently associated with increased rates of identification of less severe forms of intellectual disability but decreased rates of identification of profound multiple intellectual disability and autism spectrum disorder. Minority ethnic status was, in general, associated with lower rates of identification of intellectual and developmental disabilities. Exceptions to this general pattern included higher rates of identification of less severe forms of intellectual disability among Gypsy/Romany and Traveller children of Irish heritage, and higher rates of identification of more severe forms of intellectual disability among children of Pakistani and Bangladeshi heritage., Conclusions: Children whose development is already compromised (and especially children with less severe intellectual disabilities) are at increased risk of exposure to social conditions that are themselves inimical to healthy development.

Objective: This study explored the potential roles and utility of the Parents Evaluation of Developmental Status (PEDS) to screen children for developmental delays in a Southeast Asian clinical sample of preschool children. The PEDS is a 10-item questionnaire instrument used in pediatric settings for reporting parents' concerns for their children's development, learning, and behavior. Clinicians use it to make decisions about clinical pathways for high-, moderate-, and low-risk categories of concerns, but its utility in cross-cultural contexts has not been well documented., Methods: Participants in this study were 1806 parents, teachers, and child care workers of preschool children in Singapore. Of these, 47.2% were English speaking, 21.2% were Mandarin Chinese speaking, and 31.6% were Malay speaking. PEDS was translated into Chinese and Malay for parents using these languages predominantly., Results: Only parent results were analyzed. The reporting of significant parental concern was considerably higher than US norms and Australian pilot figures when western cutoff scores were applied. When cutoff scores were adjusted, similar patterns of reporting of high, medium, and low risk for disability could be captured., Conclusions: Parents' interpretation of the concept of "concern" varies across language and culture. Findings highlight the importance of evaluating a screening tool's use in local contexts before its widespread implementation to yield clinically meaningful results.

Early childhood malnutrition has been associated with delayed development. Limited data exist however about the timing of developmental delay early in life. We assessed motor milestone (MM) achievement using the World Health Organization's windows of achievement for gross motor milestones. We performed secondary analysis of baseline data of 158 Vietnamese children aged 5-18 months from a randomized community intervention trial. Median age of motor milestone achievement was compared to WHO reported medians. Multivariate logistic regression was used to identify socioeconomic, anthropometric and dietary factors associated with motor milestone achievement during the windows of achievement. Thirty four per cent of the children were stunted. Median age of MM achievement of Vietnamese children lagged by 2.4-3.7 months, compared to the WHO median for all MMs. Greater length-for-age increased the odds for walking with assistance, standing alone and walking alone by more than 3 times. Greater weight-for-age increased the odds by 3.6 for hand-and-knees crawling. Likewise, frequency of daily complementary feeding raised the odds by 3.6 for standing with assistance. In this first application of WHO windows of achievement in Viet Nam, pre-schoolers achieved motor milestones later than WHO reported median age. High prevalence of stunting and association of length-for-age with motor milestone achievement underscore the importance of addressing chronic malnutrition to optimize children's growth and development.

Increasing global population movement has resulted in a corresponding increase of children with severe and multiple disabilities and complex communication needs who at home are exposed to languages different from the language used at school. The aim of this study was to highlight facilitating as well as limiting factors for effective communication intervention for these children both in school and within the family. Based on observations, qualitative research interviews and analysis in the tradition of grounded theory the results indicate that the quality of parent-teacher-interaction is central to effective communication intervention and culturally sensitive use of communication aids. Challenges for teachers as well as parents to achieve a mutually satisfying interaction are addressed, and issues regarding the language use with children with severe disabilities and a multilingual and multicultural background and the inclusion of their parents in school based activities are discussed.

Objective: To examine factors associated with provider elicitation of parents' developmental concerns among US children., Methods: The 2007 National Survey of Children's Health was used to examine factors associated with parents' reports of provider elicitation of developmental concerns in the previous 12 months. Independent variables included child characteristics, sociodemographic factors, insurance status, and having a medical home., Results: One-half of US parents reported provider elicitation of developmental concerns. African-American (41%) and Latino (49% in households with English as the primary language and 33% with a non-English primary language) parents were significantly less likely than white parents (55%) to report elicitation of developmental concerns. With multivariate adjustment, African-American (odds ratio [OR]: 0.67 [95% confidence interval [CI]: 0.55-0.81]) and Latino (OR: 0.61 [95% CI: 0.44-0.84]) parents, compared with white parents, had significantly lower adjusted odds of provider elicitation of developmental concerns. Lack of insurance (OR: 0.61 [95% CI: 0.44-0.85]) and having a medical home (OR: 1.42 [95% CI: 1.21-1.67]) were associated with elicitation of developmental concerns. Parents of African-American and Latino children who received family-centered care had almost twice the odds of provider elicitation. For Latino parents in households with a non-English primary language, other medical home components, including having a personal provider (OR: 1.51 [95% CI: 1.08-2.11]) and a usual source of care (OR: 1.76 [95% CI: 1.13-2.74]), were significantly associated with elicitation of developmental concerns., Conclusions: Racial/ethnic and linguistic disparities exist in provider elicitation of developmental concerns. Addressing lack of insurance, medical homes, and specific medical-home components might reduce disparities.

Aims: To describe the developmental profile of Pacific children living in New Zealand at two years of age in personal/social, language, cognitive, fine motor, and gross motor domains, and to examine how sociodemographic, maternal, and cultural factors influence children's development., Methods: A cohort of Pacific infants born during 2000 in Auckland, New Zealand, was followed up at two-years postpartum. Maternal interviews were administered and the developmental status of the child was measured using the Australian Developmental Screening Test., Results: Maternal child development reports are presented for 1,018 two-year-old children. The majority of children were identified as having no developmental delay. The prevalence of no delay in any of these five domains was 64.8%. For those children (35%) who were identified with possible overall delay the significant risk factors were child ethnicity, low birth weight, being breastfed for less than six weeks, and single parenthood., Discussion: The powerful associations of these factors and developmental outcome suggest that interventions need to have the flexibility to address such issues within individual Pacific families and communities.

Developmental Coordination Disorder (DCD) is characterized by clumsiness and coordination difficulties. DCD interferes with academic performance and participation in physical activities and psychosocial functions, such as self-esteem, cognition, or emotion, from childhood through adolescence to adulthood. DCD is a common pediatric condition and its prevalence is estimated to be 6% worldwide. Although English questionnaires are available, there is no questionnaire to identify DCD in Japan, and therefore, no information on its prevalence is available. Recently, we developed the Japanese version of the Developmental Coordination Disorder Questionnaire (DCDQ-J). The purpose of this study was to describe the applicability of the DCDQ-J for use with a community-based population of children in Japan and to investigate the relationships between coordination and attention-deficit hyperactivity disorder (ADHD) tendencies or intelligence. The DCDQ-J was completed by 6330 parents or guardians of children and adolescents. We employed the ADHD-rating scale and determined the intelligence quotient (IQ) of the children. Two-way analysis of variance showed that the scores linearly increased as the children's grades advanced in 2 subscales, namely, control during movement and fine motor. In contrast, non-linear changes were found in the scores of the general coordination subscale. The total scores of the DCDQ-J and ADHD-RS were significantly correlated, but no relationship between DCDQ-J scores and IQ was found. The DCDQ-J is expected to be a useful screening tool to identify and assess motor coordination difficulties of children in Japan and enable cross-cultural comparisons., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

We aimed 1) to define risk factors for adverse outcome in urban African American patients, 2) to determine whether clinical variables as risk factors are congruent with previously published data, and 3) to identify the proportion of infants with different outcomes. The study included African American infants who were born and participated in neurodevelopmental follow-up. Infants with gestational age range of 23 to 41 weeks, and birth weight (BW) range of 495 to 3,965 g were classified by developmental outcome. Among the smallest infants, BW, gestational age, gender and respiratory distress syndrome were significantly (p&lt;.05) associated with adverse outcome. No significant risk factors were identified for adverse outcome in the two other birth weight categories. Adverse outcomes were seen more frequently in infants with BW ≤1,500 g than in larger infants. The number of infants with severe outcome was found higher than previously reported and may be related to different racial/generational origin.

Cohen syndrome (CS) (OMIM#216550) is an uncommon autosomal recessive developmental disorder that has been attributed to mutations in the COH1 gene in at least 200 patients of diverse ethnic background so far. The clinical heterogeneity of CS is evident when comparing patients of different ethnic backgrounds, especially when evaluating specific system phenotypes separately, such as the ophthalmic and central nervous systems. We reviewed the available clinical data on CS cohorts of patients who share a founder effect and demonstrated that most features associated so far with CS are less than those always present in the patients who share a founder mutation thus representing clinical heterogeneity. Furthermore, there is a wide clinical variability of CS in the distinct founder mutation cohorts, the Finnish, Greek/Mediterranean, Amish and Irish travelers. The Greek/Mediterranean founder mutation is correlated to a CS phenotype characterized by specific and persistent skeletal features, corneal changes, periodontal disease, a distinct neurocognitive phenotype for the high recurrence of autism and non-verbal communication and inconstant microcephaly., (© 2011 John Wiley & Sons A/S.)

We identified factors associated with the empowerment of Japanese families using the Family Empowerment Scale (FES) to contribute to the improvement of empowerment in Japanese families raising a child with developmental disorders (DDs). The study was conducted in 350 caregivers who raised children aged 4-18 years with DDs in urban and suburban districts in Japan. Multiple regression analysis of data collected from 275 respondents revealed that a decrease in family empowerment level correlated with a higher number of siblings reared together, a shorter period since the diagnosis was made, and lower awareness of social support and self-efficacy in caregivers. Medications, possession of an intellectual disability certificate, infrequent hospital visits of the child, disuse of local services by caregivers, and young caregivers also correlated with a lower level of empowerment in the Japanese family., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

This preliminary study compares the family functioning, caregiver burden, and coping abilities between mothers of 300 children with developmental disorders and mothers of 100 children with no such disorders in the Bedouin community in Israel. The mothers completed the McMaster Family Assessment Device Scale, the Caregiver Burden Index, and the Sense of Coherence Scale. Mothers of children with developmental disorders reported lower family functioning, a higher caregiver burden, and a lower sense of coherence and thus lower coping abilities than mothers of children with no disorders. The study highlights the need to provide professional support for mothers of children with developmental disorders and to develop awareness and culturally appropriate intervention programs to enhance these mothers' coping abilities.

Aim: To trial the Brigance developmental screening tool as an instrument for identifying Australian Aboriginal children at risk of developmental disability and requiring diagnostic developmental assessment., Methods: We conducted a cross-sectional study of Australian Aboriginal children, aged 3-7 years, resident in three remote communities in the Northern Territory. Following informed consent, children were screened by a paediatrician using the Brigance screen., Results: There were 195 children identified as eligible, and 124 (64%) participated. All children screened, scored below the cut-off for detecting children likely to have developmental disabilities or academic delays. Furthermore, all children scored below the at-risk cut-offs that indicate high probability of disabilities in at-risk children., Conclusions: The Brigance screen identified all children in these high-risk Aboriginal communities as well behind their age peers. Language and cultural relevance, and the method of administration limit the use of this screening tool. However, we cannot ignore the uniformly poor performance on a mainstream tool used with children expected to succeed in a mainstream educational setting. Recommendations include adapting an appropriate instrument to guide developmental surveillance and monitoring in remote Australian Aboriginal communities. This study further supports the pressing need for quality early childhood services that address the significant risk confronting Aboriginal children and prepare them in a way that ensures school and future success., (© 2010 The Authors. Journal of Paediatrics and Child Health © 2010 Paediatrics and Child Health Division (Royal Australasian College of Physicians).)

The family economic burden of raising autistic children, physical disabled children and mental disabled children were evaluated in China. 227 parents of children with autism, children with physical disability, children with mental disability and normal children were interviewed for children's costs, family income and economic assistance, etc. The medical cost and caring cost of disabled children were significantly more than those of normal children, and the education cost, clothes cost and amusement cost of disabled children were significantly less than those of normal children. Family income was only predicted by parents' education level. Families of disabled children received more economic assistance than families of normal children except families of autistic children. More children the family had, less economic assistance the family acquired. Compared with normal children, the raising burden of children with disabilities were as follows: children with autism (19582.4 RMB per year), children with physical disability (16410.1 RMB per year), children with mental disability (6391.0 RMB per year). Families of autistic children, physical disabled children and mental disabled children have heavier raising burden than families of normal children, they need more help from many aspects., (Copyright © 2010 Elsevier Ltd. All rights reserved.)

This essay looks at the representation of disability in the recent Spanish film "Yo, también" through the lens of disability studies, understood as a political project. The film's portrayal of a character who is, like the actor who plays him, Europe's first university graduate with Down syndrome, is unique. Moreover, "Yo, también" provides the opportunity to assess the state of the struggle for rights for persons with disabilities both in the film's narrative arc and also in the wider Spanish (and global) society. Among other sources, specific articles of the United Nations's recent Convention on the Rights of People with Disabilities are incorporated into the essay. Both essay and film coincide in emphasizing the need to grant disabled populations greater autonomy in the spheres of love and work.

Heterozygous activating mutations in the KCNJ11 gene can cause permanent and transient neonatal diabetes. In the present study, we sequenced the KCNJ11 gene in a Chinese boy diagnosed with permanent neonatal diabetes mellitus (PNDM) and also in his parents. A heterozygous 175G > A (V59M) mutation was identified in the patient, while no KCNJ11 gene mutations were found in his parents, indicating that this mutation is de novo. The patient with the V59M mutation successfully switched from insulin injections to oral glibenclamide; 2 years of follow-up revealed that the patient had intermediate developmental delay, epilepsy and neonatal diabetes (DEND) syndrome. This is the first patient who is reported to have iDEND syndrome due to KCNJ11 V59M mutation in China.

Background: A novel phenotype consisting of cataract, mental retardation, erythematous skin rash and facial dysmorphism was recently described in an extended pedigree of Australian Aboriginal descent. Large scale chromosomal re-arrangements had previously been ruled out. We have conducted a genome-wide scan to map the linkage region in this family., Methods: Genome-wide linkage analysis using Single Nucleotide Polymorphism (SNP) markers on the Affymetrix 10K SNP array was conducted and analysed using MERLIN. Three positional candidate genes (ZBTB17, EPHA2 and EPHB2) were sequenced to screen for segregating mutations., Results: Under a fully penetrant, dominant model, the locus for this unique phenotype was mapped to chromosome 1p35.3-p36.32 with a maximum LOD score of 2.41. The critical region spans 48.7 cM between markers rs966321 and rs1441834 and encompasses 527 transcripts from 364 annotated genes. No coding mutations were identified in three positional candidate genes EPHA2, EPHB2 or ZBTB17. The region overlaps with a previously reported region for Volkmann cataract and the phenotype has similarity to that reported for 1p36 monosomy., Conclusions: The gene for this syndrome is located in a 25.6 Mb region on 1p35.3-p36.32. The known cataract gene in this region (EPHA2) does not harbour mutations in this family, suggesting that at least one additional gene for cataract is present in this region.

Background: This paper describes the development of an Attitudes to Disability Scale for use with adults with physical or intellectual disabilities (ID). The aim of the research was to design a scale that could be used to assess the personal attitudes of individuals with either physical or ID., Method: The measure was derived following standard WHOQOL methodology as part of an international trial. In the pilot phase of the study, 12 centres from around the world carried out focus groups with people with physical disabilities, people with ID, with their carers, and with relevant professionals in order to identify themes relevant for attitudes to disability. Items generated from the focus groups were then tested in a pilot study with 1400 respondents from 15 different centres worldwide, with items being tested and reduced using both classical and modern psychometric methods. A field trial study was then carried out with 3772 respondents, again with the use of both classical and modern psychometric methods., Results: The outcome of the second round of data collection and analysis is a 16-item scale that can be used for assessment of attitudes to disability in physically or intellectually disabled people and in healthy respondents., Conclusions: The Attitudes to Disability Scale is a new psychometrically sound scale that can be used to assess attitudes in both physically and intellectually disabled groups. The scale is also available in both personal and general forms and in a number of different language versions.

Objective: To examine how infant overweight and high subcutaneous fat relate to infant motor development., Study Design: Participants were from the Infant Care, Feeding, and Risk of Obesity Project, a prospective, longitudinal study of low-income African-American mother-infant dyads assessed from 3 to 18 months of age (836 observations on 217 infants). Exposures were overweight (weight-for-length z-score>or=90th percentile of 2000 Centers for Disease Control/National Center for Health Statistics growth reference) and high subcutaneous fat (sum of 3 skinfold measurements>90th percentile of our sample). Motor development was assessed by using the Bayley Scales of Infant Development-II. Developmental delay was characterized as a standardized Psychomotor Development Index score<85. Longitudinal models estimated developmental outcomes as functions of time-varying overweight and subcutaneous fat, controlling for age and sex. Alternate models tested concurrent and lagged relationships (earlier weight or subcutaneous fat predicting current motor development)., Results: Motor delay was 1.80 times as likely in overweight infants compared with non-overweight infants (95% CI,1.09-2.97) and 2.32 times as likely in infants with high subcutaneous fat compared with infants with lower subcutaneous fat (95% CI, 1.26-4.29). High subcutaneous fat was also associated with delay in subsequent motor development (odds ratio, 2.27; 95% CI, 1.08-4.76)., Conclusions: Pediatric overweight and high subcutaneous fat are associated with delayed infant motor development., (Copyright (c) 2010 Mosby, Inc. All rights reserved.)

Autosomal recessive severe congenital neutropenia (SCN) results from a maturation arrest of granulopoiesis at the level of promyelocytes and apoptosis of myeloid cells. In SCN patients, mutations have been described in the HAX1 gene. Most of the SCN patients who carry nonsense mutations that are common to both transcript variants of the HAX1 gene also exhibit neurological deficits. This study describes an SCN patient with neurological manifestations including daily episodes of atonic seizures, learning disabilities, and developmental delay. Sequencing of the HAX1 gene of this SCN patient identified a novel nonsense c.463&#95;464insC homozygous mutation in exon 3, which is common to both transcript variants of the gene. This mutation encodes for a p.Gln155ProfsX14 change and causes premature truncation of the HAX1 protein. Neutrophils isolated from the patient exhibited spontaneous apoptosis and loss of inner mitochondrial membrane potential, which were further enhanced upon treatment with hydrogen peroxide. This study adds to the spectrum of novel HAX1 gene mutations and disease manifestations in ethnically distinct SCN patients. Our report describes the only nonsense mutation in the HAX1 gene present in SCN patients of Arab origin.

An ethical dilemma that is not uncommon to encounter when caring for children occurs when parental preference does not appear to be in the child's best interest. Challenges facing the health care team are further amplified when the family's cultural background does not match that of the team. A case study will be used to illustrate the challenges of a pediatric palliative care ethical dilemma further complicated by cultural diversity. Review of the child's medical condition, patient/parent preferences, quality of life, and contextual features will be followed by an analysis and recommendations for resolution of this challenging situation., (Copyright 2010 Elsevier Inc. All rights reserved.)

Otitis media is a common disease in childhood that can adversely affect cognitive and educational outcomes. The literature in this area is equivocal, and findings may be influenced by research design. The impact of otitis media on individual children's development appears to depend on the inter-relationship between several factors. Children who have early-onset otitis media (under 12 months) are at high risk of developing long-term speech and language problems. Otitis media has been found to interact negatively with pre-existing cognitive or language problems. For biological or environmental reasons, some populations have a pattern of early onset, higher prevalence and episodes of longer duration; this pattern leads to a higher risk of long-term speech and language problems. These factors suggest that Indigenous children may be at higher risk of cognitive and educational sequelae than non-Indigenous children.

The utility of the life-course framework to address disparities in child health is based on its ability to integrate the science of child development with the requirements of effective and just public policy. I argue that the life-course framework is best assessed in a historical context and through 4 essential observations. First, early genetic and environmental interactions are complex and influence outcomes in different settings in very different ways. Second, these early-life interactions are themselves subject to considerable later influences and, therefore, may not be highly predictive of later outcomes. Third, the etiologic nature or timing of early-life interactions does not, per se, determine if their life-course effects are amenable to later interventions. Fourth, a highly deterministic view of early-life interactions is not supported by the science and can generate counterproductive approaches to research and policy development. Finally, an alternative approach is proposed on the basis of a "human-capacity" model of the life course that connects the search for underlying basic mechanisms with a policy-based examination of the comparative effectiveness of influences at different developmental stages. This approach suggests an expanded research and policy agenda that might be more capable of generating urgently needed strategies for reducing disparities in child health. Such an approach could ultimately define more comprehensively the power and limits of life-course effects in shaping the social distribution of health outcomes in the real world.

Objective: To describe the time and actions on 3 key health topics during health supervision (HS) visits of children aged 0 to 1 years., Method: HS visits were observed at 5 offices. Parents provided demographics and children's measurements were obtained. Using special computer software, visits were observed for frequency and time for growth measurements, charting and interpretations, and for discussions on growth, diet, and safety., Results: A total of 128 visits were analyzed. Almost all children had weight (100%) and height (98%) measured and >80% had weight-for-age and height-for-age plotted. Growth interpretation (weight-for-height) was determined for 1 child. Nearly all visits included discussions of growth (88%), diet (97%), and safety (84%). When a topic was addressed, median times were as follows: growth, 9 seconds; diet, 42 seconds; and safety, 22 seconds. Median time on all 3 topics was 86 seconds., Conclusion: Growth, diet, and safety are frequently, but briefly, discussed at HS visits of young children.

Early adversity can alter development of neurocognition, including executive cognitive and emotional regulatory functions. This is the first study to explore differential relationships between personal (physical and emotional abuse and neglect, school and parental stressors) and community (neighborhood problems and witnessing neighborhood violence) stressors and neurocognition. Predominantly Latino children (n = 553) aged 10 to 12 years completed tasks measuring intelligence, impulsivity, problem solving, cognitive flexibility, decision making, and emotion attributions. Adjusting for age and parent education, bivariate regression analyses found exposure to personal stressors to be associated with relative deficits in at least one neurocognitive function. Community stressors were related to relative deficits in emotion attributions and problem solving. In multivariate analyses, neglect was related to misattributions of emotion and IQ deficits, and physical abuse was related to problem solving. Community stressors were not correlated with neurocognition when viewed relative to personal stressors. Stressor types were differentially associated with performance on specific neurocognitive tasks.

Background: The Harris Infant Neuromotor Test (HINT) was developed as a screening tool for potential motor and cognitive developmental disorders in infants. Scoring on the HINT has been shown to be reliable, and several studies have supported the validity of the HINT. Normative values for the tool have been developed using Canadian infants., Objective: The aims of this study were (1) to further evaluate the validity of the HINT by comparing data obtained on US infants who were developing typically with data previously acquired on Canadian infants and (2) to determine the concurrent validity of the HINT with the Ages and Stages Questionnaire (ASQ). Secondary analyses of HINT scores for US white and nonwhite infants and for US infants who had parents with lower levels of education and US infants who had parents with higher levels of education (as a proxy for socioeconomic status [SES]) were conducted., Design: Cross-sectional exploratory and quasi-experimental comparative research designs were used to evaluate the validity of the HINT., Methods: Sixty-seven infants from the United States who were developing typically and who were aged 2.5 to 12.5 months were recruited via convenience sampling. Sixty-four of these infants were compared with Canadian infants matched for age, sex, ethnicity or race, and parental education. The HINT was administered by raters who had been trained to attain acceptable levels of interrater reliability, and parents completed the ASQ. The HINT scores for US white versus nonwhite infants (n=46) and infants who had parents with lower SES versus a higher SES (n=52) were compared., Results: There were no significant differences between HINT total scores for US and Canadian infants or for US racial or ethnic groups and SES groups. There were high correlations (r=-.82 to -.84) between HINT and ASQ scores., Limitations: The study used a small US sample with limited geographical diversity. Small sample numbers also did not allow for comparisons of specific racial or ethnic groups. The SES groups were created primarily using parental education as a proxy for SES., Conclusions: The results suggest that HINT screening in the United States is supported on the basis of Canadian norms and the validity of the HINT in screening for motor and cognitive delays. Although there is preliminary support for the HINT as an appropriate screening tool for US infants who are nonwhite or who have parents with a lower SES, more research is warranted.

Background: Social capital, defined as an investment in relationships that facilitates the exchange of resources, has been identified as a possible protective factor for child health in the context of risk factors such as poverty. Reliable and valid measures of social capital are needed for research and practice, particularly in non-English-speaking populations in developing countries., Objectives: To evaluate the psychometric properties and cross-cultural equivalence of the Arabic translation of the Social Capital Scale (SCS)., Design: Descriptive, cross-sectional study for psychometric testing of a translated tool., Setting: Two metropolitan health clinics in Alexandria, Egypt., Participants: A convenience sample of 117 Egyptian parents of children with chronic conditions. To be eligible to participate, respondents had to be a parent of child with a chronic health condition between the ages of 1 and 18 years. The sample included primarily biological parents between the ages of 20 and 56 years., Methods: The 20-item Arabic SCS was administered as part of a written survey that included additional measures on demographic information and parent ratings of the child's overall health. Six items were ultimately removed based on item analysis, and exploratory factor analysis was conducted on the resulting 14-item scale. As a measure of construct validity, hypothesis testing was conducted using an independent samples t-test to determine whether a significant difference exists between mean total social capital scores for two groups of respondents based on the parental rating of the child's overall health., Results: Item and factor analysis yielded preliminary support for a revised, 14-item Arabic SCS with four internally consistent factors. The standardized item alpha reliability coefficient for the total 14-item scale was .75. Respondents who reported that their child was in good health had significantly higher social capital scores than those who rated their child's health as poor., Conclusions: The 14-item Arabic SCS was found to be reliable and valid in this sample, with four internally consistent factors. While the tool may not be appropriate for comparing social capital between cultural groups, it will enable clinicians and researchers to address an important gap in knowledge characterized by a paucity of research on childhood chronic illness in low- and middle-income countries such as Egypt.

Objectives: To evaluate whether Massachusetts Early Intervention (EI) serves children at risk of developmental delay due to social factors, we identified socio-demographic characteristics associated with program enrollment and examined predictors of participation at each stage from referral to enrollment., Methods: The Pregnancy to Early Life Longitudinal (PELL) data system linked birth certificate, hospital discharge, and EI data for all Massachusetts births, 1998-2000. We identified predictors of enrollment among births and predictors of referral, eligibility evaluation among those referred, and enrollment among eligible children using multivariate modified Poisson models to adjust for medical risks., Results: Overall, 29,950 children (13.7% of births) enrolled in EI. Most social risk indicators predicted enrollment, including maternal government insurance (RR=1.32, 95% CI 1.29-1.36) and maternal education

This study examined health behaviors, utilization, and access to care among older Latina and Black American mothers who co-reside with a child with developmental disabilities. Using data from the National Health Interview Survey National Center for Health Statistics (2005a), we compared Latina and Black American caregivers to similar women who did not have caregiving responsibilities. Findings showed that Latina caregivers were more likely to smoke and have insurance; Black American caregivers were less likely to be able to afford medication and mental health care; and both groups were less likely to have seen a doctor in the past year than their noncaregiving counterparts. Findings suggest that service providers should consider developing programs that focus on health for caregivers of color. Furthermore, results suggest that providers should take into account differing trends across ethnicities when designing programs.

Background: Early identification of developmental delay is important for ensuring that children receive the early intervention services they need. Racial disparities exist for a number of childhood conditions, but it is not known whether there are racial disparities in the age of diagnosis with developmental delay., Objective/hypothesis: This study aimed to determine the mean age of diagnosis with developmental delay for children ensured by South Carolina Medicaid. We hypothesized that African American children would be diagnosed later than white children., Methods: A retrospective cohort study design explored South Carolina Medicaid claim records to determine the age when 5358 children with developmental delay (DD) were first diagnosed and whether there were racial disparities in age of diagnosis., Results: The mean age at diagnosis was 4.08 years for African American children and 4.27 years for white children. For children diagnosed with DD and mental retardation, the average age of first diagnosis was 2.6 years, and for children with DD plus cerebral palsy, the average age was 2.1 years. African American race was significantly associated with younger diagnosis with DD in a multivariable model, but the overall model explained little of the variation in age at diagnosis., Conclusions: There were no clinically significant racial differences in the mean age of diagnosis with developmental delay. However, in general the age of diagnosis was undesirably late for both groups. Additional efforts are needed to ensure that children with DD, living in South Carolina, are identified near the beginning of early intervention services.

There has been a decline in the mortality rate among infants and children under five years of age in the last decade in many developing countries. This has led to a shift in focus to look beyond survival to the prevention or reduction of impairment and promotion of children's health. With the apparent rise in the prevalence of autism spectrum disorders (ASD) in the Arab countries the development of an Arabic tool for early diagnosis and intervention was sought as part of an effort to better understand the prevalence of this disorder. The Modified Checklist for Autism in Toddlers (M-CHAT) was chosen. The study was conducted in nine Arabic speaking countries. The final analysis included 228 children (122 screened positive for ASD). The sensitivity (0.86), the specificity (0.80) and positive predictive value (0.88) were very similar to Robins et al. study (2001). Maternal health problems during pregnancy and labour were found to be more significant for ASD mothers than their control. In addition, child health problems were more evident among ASD subjects as reported by their parents with significant differences from controls. The limitation of the study is that the sample size is not large enough to generalize the results to all countries of the region. The strength of the study is that it is the first known study where Arab countries undertook a collaborative mental health study using the same tool for screening for a specific disorder.

Background: For occupational therapy to be meaningful for all families who have a child with a developmental disability, the profession needs to consider and integrate into practice alternative and more inclusive epistemologies. A greater understanding and respect of a First Nations worldview may help reduce the risk of inadvertently perpetuating oppression and assimilation., Purpose: To describe raising a child with a developmental disability from the perspective of five members of the Lil'wat Nation., Methods: Data were obtained from in-depth interviews and analysed using a constant comparative approach., Findings: Within the category of family the subcategories identified were extensive support network, intergenerational learning and doing, and influence of the residential school system. Within the category of raising a child the subcategories identified were health and spirituality, causation beliefs, and a sense of knowing., Implications: Occupational therapists need to be cognizant of alternative worldviews on child rearing, family, and health that may differ significantly from their own personal and professional beliefs and practices.

Context: Neonatal diabetes mellitus (NDM) is classified clinically into a transient form (TNDM), in which insulin secretion recovers within several months, and a permanent form (PNDM), requiring lifelong medication. However, these conditions are genetically heterogeneous., Objective: Our objective was to evaluate the contribution of the responsible gene and delineate their clinical characteristics., Patients and Methods: The chromosome 6q24 abnormality and KCNJ11 and ABCC8 mutations were analyzed in 31 Japanese patients (16 with TNDM and 15 with PNDM). Moreover, FOXP3 and IPF1 mutations were analyzed in a patient with immune dysregulation, polyendocrinopathy, enteropathy X-linked syndrome and with pancreatic agenesis, respectively., Results: A molecular basis for NDM was found in 23 patients: 6q24 in eleven, KCNJ11 in nine, ABCC8 in two, and FOXP3 in one. All the patients with the 6q24 abnormality and two patients with the KCNJ11 mutation proved to be TNDM. Five mutations were novel: two (p.A174G and p.R50G) [corrected] in KCNJ11, two (p.A90V and p.N1122D) in ABCC8, and one (p.P367L) in FOXP3. Comparing the 6q24 abnormality and KCNJ11 mutation, there were some significant clinical differences: the earlier onset of diabetes, the lower frequency of diabetic ketoacidosis at onset, and the higher proportion of the patients with macroglossia at initial presentation in the patients with 6q24 abnormality. In contrast, two patients with the KCNJ11 mutations manifested epilepsy and developmental delay., Conclusions: Both the 6q24 abnormality and KCNJ11 mutation are major causes of NDM in Japanese patients. Clinical differences between them could provide important insight into the decision of which gene to analyze in affected patients first.

The United States has been and continues to be a multicultural society. Many children are born into two cultures, sharing a different one with each parent. Children with intellectual and developmental disabilities (I/DD) may belong to a minority culture, the additional culture of disability, and the culture of poverty. After an introduction to culture and its characteristics, the focus of this article is on strategies pediatric nurses can use to assess and intervene with minority children with I/DD and their families in a culturally sensitive manner. Suggestions for future research are provided.

The health, development, and sleeping patterns of 240 children adopted from China were examined using a survey research approach. Eighty percent of the children were 18 months of age or younger when adopted, and 98 percent of the children were girls. Sixty-two percent of the children were reported to have been developmentally delayed at the time of adoption; of this number, 91 percent were reported to have had delays in motor development. Of the families, 52 percent reported that children experienced sleep problems, but only 9 percent of the total sample experienced significant sleep difficulties. Implications for social workers are also discussed.

The impact of caring for a child with a developmental disability on the physical and mental health of Latina and Black American women was examined. We used the National Health Interview Survey to compare the health of older mothers who were co-residing with a child who had a developmental disability to the health of same age mothers without caregiving responsibilities. Findings show that for both groups, older adult caregivers were more likely to report having limitations from arthritis than their noncaregiving counterparts. Caregiving was associated with more depressive symptoms for Latinas, but this relationship was not found for Black American women. Findings suggest that physical and mental health of caregivers need more attention in research and practice.

This article presents findings from a survey mailed to caseworkers, who answered questions about special needs, independent living skills, educational attainment, and services for 416 randomly selected foster youth in Illinois. A third of the adolescents had a mental health disorder, developmental disability, or other special need that their caseworkers believed would interfere with their ability to live independently. Additionally, urban youth were underserved relative to other youth. Youth with more behavior problems and educational and job skill deficits were less likely than other youth to continue to receive child welfare services past age 18, suggesting that services must be provided throughout adolescence to meet the needs of the most vulnerable clients.