Background: Copy-number variants (CNVs) of chromosome 15 have been associated with neurodevelopmental disorders like autism spectrum disorders (ASDs) and developmental delay.

We report 6 patients with autistic features and other neurodevelopmental problems carrying CNVs of chromosome 15.

Materials and methods: The probands belong to a group of patients referred to our clinic and laboratory with autism as main feature. A complete clinical evaluation was performed with focus on neurologic, psychiatric, and psychological evaluation with specific autism tests. Array-based comparative genomic hybridization (array-CGH) was performed using 180K platform (Agilent technology).

six patients investigated by array-CGH had a CNV involving chromosome 15. Four of these patients, previously reported by us (ref 1), had small duplications of 15q13.3 involving CHRNA7 and OTUD7A genes. The other two patients had large deletions of 15q21q22 and 15q24, respectively. A deletion of 15q21.2 - q22.2 was detected in one patient. The deleted region contains 62 genes and has been rarely reported in patients with neurodevelopmental disorders. A deletion of 15q24.1 - q24.2 was detected in the other patient. This region is recurrently deleted in developmentally delayed patients (ref 3).

Our data highlight that chromosome 15 is a hub for neurodevelopmental disorder and illustrates the utility of array-CGH in the investigation of patients with autism, specifically in the context of complex phenotypes. Acknowledgment: The research leading to these results has received funding from the EEA Grant 2014-2021, under the project contract No 6/2019. References: Genes (Basel). 2021 Jul 1;12(7):1025. https://www.omim.org/entry/618060 Clinical Genome Resource. https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-46296

No significant relationships.

To examine the use of early intervention services in infants with CHD after open-heart surgery and identify factors associated with receipt of services.

Surveys were administered to caregivers of infants who underwent open-heart surgery before 1 year of age at a single institution between July, 2017 and July, 2018. Information regarding the infant’s use of early intervention services and the caregiver’s experience with the programme was obtained. Clinical data were retrieved from the medical record review. Logistic regression identified factors associated with receipt of services.

The study included 158 eligible infants. Ninety-eight caregivers (62%) completed the surveys. Of those surveyed, 53.1% of infants were currently or previously enrolled in early intervention services. Infants most frequently received physical therapy (76.9%). The majority of caregivers found services to be moderately/very helpful (92.3%) and sufficient for their child (76.9%). In the univariate analysis, single-ventricle disease, known syndrome/genetic abnormality, extracardiac anomaly, and longer intensive care and hospital length of stay were associated with receipt of services. Single-ventricle disease (p = 0.004) and known syndrome/genetic abnormality (p < 0.0001) remained independently associated with receipt of services in the multivariable analysis.

Amongst infants at risk for neurodevelopmental deficits, approximately half received services after open-heart surgery. Caregivers expressed satisfaction with the programme. While infants with single-ventricle disease and a known syndrome/genetic abnormality were more likely to receive early intervention services, many at-risk infants with CHD failed to receive services. Further research is needed to identify barriers to early intervention services and promote developmental outcomes.

Neurodevelopmental impairment is increasingly recognised as a potentially disabling outcome of CHD and formal evaluation is recommended for high-risk patients. However, data are lacking regarding the proportion of eligible children who actually receive neurodevelopmental evaluation, and barriers to follow-up are unclear. We examined the prevalence and risk factors associated with failure to attend neurodevelopmental follow-up clinic after infant cardiac surgery.

Survivors of infant (<1 year) cardiac surgery at our institution (4/2011-3/2014) were included. Socio-demographic and clinical characteristics were evaluated in neurodevelopmental clinic attendees and non-attendees in univariate and multivariable analyses.

A total of 552 patients were included; median age at surgery was 2.4 months, 15% were premature, and 80% had moderate–severe CHD. Only 17% returned for neurodevelopmental evaluation, with a median age of 12.4 months. In univariate analysis, non-attendees were older at surgery, had lower surgical complexity, fewer non-cardiac anomalies, shorter hospital stay, and lived farther from the surgical center. Non-attendee families had lower income, and fewer were college graduates or had private insurance. In multivariable analysis, lack of private insurance remained independently associated with non-attendance (adjusted odds ratio 1.85, p=0.01), with a trend towards significance for distance from surgical center (adjusted odds ratio 2.86, p=0.054 for ⩾200 miles).

The majority of infants with CHD at high risk for neurodevelopmental dysfunction evaluated in this study are not receiving important neurodevelopmental evaluation. Efforts to remove financial/insurance barriers, increase access to neurodevelopmental clinics, and better delineate other barriers to receipt of neurodevelopmental evaluation are needed.

The purpose of this study was to assess the attitude of family physicians toward a child with delayed growth and development.

Primary healthcare professionals play a key role in monitoring growth and development, the best indicator of the child’s health status. If delayed growth and development can be detected early, then it is usually possible to restore functioning.

This descriptive study was performed in Samsun, Turkey, in May and June 2015. In total, 325 family physicians were included. The study consisted of two parts. In the first session of the research, the story of an 18-month-old child with delayed growth and development was presented using visual materials. An interview between the child’s mother and a member of primary healthcare staff was then enacted by two of the authors using role-playing. Subsequently, participants were given the opportunity to ask the mother and member of primary healthcare staff questions about the case. During the sessions, two observers observed the participants, took notes and compared these after the presentation. In the second part of the study, the participants were asked to complete a questionnaire consisting of three open-ended questions.

When asking questions of the mother, family physicians generally used accusatory and judgmental language. One of the questions most commonly put to the mother was ‘Do you think you are a good mother?’ Family physicians were keen to provide instruction for the patient and relatives. Family physicians to a large extent thought that the problem of a child with delayed growth and development can be resolved through education.

Family physicians’ manner of establishing relations with the patient and relatives is inappropriate. We therefore think that they should receive on-going in-service training on the subject.

Despite documented associations between stunting and cognitive development, few population-level studies have measured both indicators in individual children or assessed stunting’s associations with other developmental domains.

Meta-analysis using publicly available data from fifteen Multiple Indicator Cluster Surveys (MICS-4) to assess the association between stunting and development, controlling for maternal education, family wealth, books in the home, developmentally supportive parenting and sex of the child, stratified by country prevalence of breast-feeding (‘low BF’<90 %, ‘high BF’ ≥90 %). Ten-item Early Childhood Development Index (ECDI) scores assessed physical, learning, literacy/numeracy and socio-emotional developmental domains. Children on track in three or four domains were considered ‘on-track’ overall.

Fifteen low- and middle-income countries.

Publically available data from 58 513 children aged 36–59 months.

Severe stunting (height-for-age Z-score <−3) was negatively associated with on-track development (OR=0·75; 95 % CI 0·67, 0·83). Any stunting (Z-score <−2) was negatively associated with on-track development in countries with high BF prevalence (OR=0·82; 95 % CI 0·75, 0·89). Severe and any stunting were negatively associated with physical development (OR=0·77; 95 % CI 0·66, 0·89 and OR=0·82; 95 % CI 0·74, 0·91, respectively) and literacy/numeracy development in high BF countries (OR=0·45; 95 % CI 0·38, 0·53 and OR=0·59, 95 % CI 0·51, 0·68, respectively), but not low BF countries (OR=0·93; 95 % CI 0·70, 1·23 and OR=0·95, 95 % CI 0·79, 1·12, respectively). Any stunting was negatively associated with learning (OR=0·79; 95 % CI 0·72, 0·88). There was no clear association between stunting and socio-emotional development.

Stunting is associated with many but not all developmental domains across a diversity of countries and cultures. However, associations varied by country breast-feeding prevalence and developmental domain.

To describe the gross motor development of infants who had undergone cardiac surgery in the neonatal or early infant period.

Gross motor performance was assessed when infants were 4, 8, 12, and 16 months of age with the Alberta Infant Motor Scale. This scale is a discriminative gross motor outcome measure that may be used to assess infants from birth to independent walking. Infants were videotaped during the assessment and were later evaluated by a senior paediatric physiotherapist who was blinded to each infant's medical history, including previous clinical assessments. Demographic, diagnostic, surgical, critical care, and medical variables were considered with respect to gross motor outcomes.

A total of 50 infants who underwent elective or emergency cardiac surgery at less than or up to 8 weeks of age, between July 2006 and January 2008, were recruited to this study and were assessed at 4 months of age. Approximately, 92%, 84%, and 94% of study participants returned for assessment at 8, 12, and 16 months of age, respectively. Study participants had delayed gross motor development across all study time points; 62% of study participants did not have typical gross motor development during the first year of life. Hospital length of stay was associated with gross motor outcome across infancy.

Active gross motor surveillance of all infants undergoing early cardiac surgery is recommended. Further studies of larger congenital heart disease samples are required, as are longitudinal studies that determine the significance of these findings at school age and beyond.