Difficulties with self-care skills are frequently observed in children with developmental delays. Given the scarcity of robust evidence backing self-care interventions for this group, this scoping review is designed to aggregate existing literature on the implementation of such interventions. Therefore, this scoping review aims to collate literature on the nature of self-care intervention implementation to increase understanding of the current practice and inform future research directions. This scoping review endeavoured to explore the body of literature concerning the existence of self-care interventions and their implementation strategies in children who have developmental delays. Relevant studies were identified by searching through the following databases: Web of Science (W0S), Scopus, ASEAN Citation Index (ACI), CINAHL EBSCO and PubMed. Six types of interventions using various approaches were identified. Occupational therapists mainly manage intervention providers with multidisciplinary co-facilitator and parents\' involvement. Whilst session information varied, some evidence suggests that at least 30 min per session, minimum once per week up to twice per week, ranging from 10 to 23 sessions, may be sufficient. Intervention plans should be tailored to each child\'s unique needs, taking into account the variety of available interventions. Collaboration among occupational therapists, parents, educators and health professionals in home programmes enhances self-care intervention outcomes. These results are set to inform future research and practice, paving the way for enhanced support and improved outcomes for children with developmental delays.

The perinatal period is a high risk for ischemic events to occur leading to lifelong morbidity. Various patterns of ischemic injury to the fetal and neonatal brain have been studied depending on gestational age as well as the degree of hypoxia/ischemia. We present a case of presumed perinatal ischemic left middle cerebral artery stroke diagnosed by magnetic resonance imaging (MRI) in a child with global developmental delay, cerebral palsy, and epilepsy. Interestingly, the typical features of middle cerebral artery stroke are often not present in perinatal strokes, and hence these are not imaged perinatally. Since studies and research into neuroplasticity and neuromodulation are current topics of interest and several research studies are being conducted, we wish to add this case to the available scientific literature.

UNASSIGNED: In young infants, under the age of one-year, cochlear malformation with profound hearing loss complicated by a perilymphatic fistula (PLF), presents a serious clinical challenge, warranting immediate audiological and surgical intervention. Timely PLF detection and closure, along with an early CI can significantly improve the prognosis of such patients and helps them in achieving their maximum hearing and developmental potential, in the long term.
UNASSIGNED: Inner ear malformation (IEM) with incomplete partition and cystic cochlea is mostly accompanied by profound hearing loss. It gets further complicated with other malformations such as a perilymphatic fistula (PLF). This case concerns an 8-month-old child cochlear malformation and profound hearing loss. Surgical intervention identified a PLF at the stapedial footplate, which was successfully closed. The surgery also included the placement of a cochlear implant (CI) in the right ear, via the round window. The left ear was equipped with hearing aids, with persistent hearing thresholds at 70-80 db. At the age of 6 years, the child showed a good hearing outcome with the CI, with only moderate speech delay. Cochlear malformation accompanied by a perilymphatic leakage warrants immediate surgical closure of the PLF, to minimize the risk of bacterial meningitis. Wherever possible, the feasibility of a CI should be explored in such cases and a CI should be placed for treatment of hearing loss. Audiological and speech outcomes may vary with the use of the CI, especially in cases of IEM. However, an early CI coupled with timely PLF detection and closure can help children with profound hearing loss, in achieving their maximum hearing and developmental potential, in the long run.

UNASSIGNED: In India, overall, 1.5-19.8% of the children were found to be developmentally delayed. The evaluation of development in young children and health professionals\' early referrals for diagnostic assessment will accelerate appropriate early intervention as early as possible. Nurses can screen the children and help the parents by providing the necessary information and support.
UNASSIGNED: To train the primary care nurses on developmental screening and early identification of developmental delay (DD) in children and find the effectiveness of the same.
UNASSIGNED: To evaluate the effectiveness of the training program on the knowledge and screening practice of the nurses towards the identification of children at risk for DD and to find out the relationship between nurses\' knowledge and screening practice.
UNASSIGNED: A quasi-experimental, one-group pretest, post-test design was adopted among 69 nurses, who were providing child care services and working in the selected government hospitals in Bengaluru, South India. Nurses\' knowledge and screening practice in identifying children at risk for DD were assessed before and after the training. SPSS package 21.00 version was used to analyse the descriptive and inferential statistics.
UNASSIGNED: The training program was effective in the enhancement of primary care nurses\' knowledge and screening practice in the identification of DDs in under-five children.
UNASSIGNED: The findings of this study concluded that developmental screening can be performed by nurses with suitable training programs. The training program played a significant role in the enhancement of nurses\' knowledge and screening practice in the identification of DDs in under-five children.

BACKGROUND: Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders.
METHODS: In this study, we conducted peripheral blood chromosome G-banding karyotyping and whole-exome sequencing (WES) on a proband presenting with anal atresia, global developmental delay, lymphocytosis, and other multisystem anomalies. Additionally, chromosome G-banding karyotyping was also carried out on the proband\'s parents and brother.
RESULTS: The 7-month-old proband was found to have a 26.738 Mb 4p15.33-p14 deletion as identified by chromosome G-banding karyotyping and WES.
CONCLUSIONS: We identified a patient with proximal 4p deletion syndrome by karyotype and WES analysis, which might explain some of his phenotypes. Our research enhances clinicians\' knowledge of this rare condition, and offers valuable genetic counseling to the affected family. Further research is necessary to identify the causative gene or critical region associated with proximal 4p deletion syndrome.

The cohesin protein complex plays a vital role in various cellular processes such as sister chromatid cohesion, chromosome condensation, DNA repair, and transcriptional regulation. It is constituted by SMC1, SMC3, RAD21, STAG1/STAG2 subunits, and several regulatory proteins. Pathogenic variants in these components cause cohesinopathies, with common clinical features including facial dysmorphism, delayed growth, developmental delay, and limb anomalies. Pathogenic variants in the STAG1 contribute to an emerging syndromic developmental disorder with only 21 reported cases in the literature. We describe a 3-year-old girl presenting with congenital bilateral clubfoot and unilateral microphthalmia-clinical manifestations not previously reported in the literature. Whole exome sequencing revealed a novel de novo nonsense variant (c.1183C>T, p.(Arg395*)) in the STAG1, expanding the clinical and molecular spectrum of STAG1-related cohesinopathy. This patient\'s unique phenotype highlights the clinical diversity within cohesinopathies, emphasizing their relevance in cases of developmental delay and dysmorphic features. Further studies, including genotype-phenotype correlation analyses and functional investigations, are essential for enhancing our understanding of STAG1-related cohesinopathy.

BACKGROUND: Copy number variants (CNVs) have become increasingly instrumental in understanding the etiology of all diseases and phenotypes, including Neurocognitive Disorders (NDs). Among the well-established regions associated with ND are small parts of chromosome 16 deletions (16p11.2) and chromosome 15 duplications (15q3). Various methods have been developed to identify associations between CNVs and diseases of interest. The majority of methods are based on statistical inference techniques. However, due to the multi-dimensional nature of the features of the CNVs, these methods are still immature. The other aspect is that regions discovered by different methods are large, while the causative regions may be much smaller.
RESULTS: In this study, we propose a regularized deep learning model to select causal regions for the target disease. With the help of the proximal [20] gradient descent algorithm, the model utilizes the group LASSO concept and embraces a deep learning model in a sparsity framework. We perform the CNV analysis for 74,811 individuals with three types of brain disorders, autism spectrum disorder (ASD), schizophrenia (SCZ), and developmental delay (DD), and also perform cumulative analysis to discover the regions that are common among the NDs. The brain expression of genes associated with diseases has increased by an average of 20 percent, and genes with homologs in mice that cause nervous system phenotypes have increased by 18 percent (on average). The DECIPHER data source also seeks other phenotypes connected to the detected regions alongside gene ontology analysis. The target diseases are correlated with some unexplored regions, such as deletions on 1q21.1 and 1q21.2 (for ASD), deletions on 20q12 (for SCZ), and duplications on 8p23.3 (for DD). Furthermore, our method is compared with other machine learning algorithms.
CONCLUSIONS: Our model effectively identifies regions associated with phenotypic traits using regularized deep learning. Rather than attempting to analyze the whole genome, CNVDeep allows us to focus only on the causative regions of disease.

Motivation is a key factor for child development, but very few studies have examined child and family predictors of both child task and perceived motivation. Thus, the three aims of this 6-month longitudinal study in preschoolers with global developmental delays (GDD) were to explore: 1) differences between task and perceived motivation in cognitive domain; 2) differences among three domains of perceived motivation: cognitive, gross motor, and social; and 3) early child and family predictors of cognitive task motivation and the three domains of perceived motivation 6 months later. Results indicated that preschoolers with GDD showed higher cognitive task motivation than cognitive perceived motivation, and lower perceived cognitive motivation than the other two perceived motivation domains. Different child and family factors predicted cognitive task motivation and the three domains of perceived motivation. Practitioners should educate caregivers on how to observe children\'s motivation to enhance children\'s active participation.

BACKGROUND: The BCL11A gene is involved in disorders including intellectual disability syndrome (IDS), encodes a zinc finger protein highly expressed in haematopoietic and brain and acts as a transcriptional repressor of foetal haemoglobin (HbF). De novo variants in BCL11A have been associated with IDS, which is characterized by developmental delays, autism spectrum disorder (ASD) and speech and language delays. The reports of BCL11A gene variants are still limited worldwide, and additional cases are needed to expand the variant and phenotype spectrums.
METHODS: The patient is a 5-year-old girl who was hospitalized due to developmental delays. After analysing her clinical and pathological characterizations, whole-exome sequencing (WES) was performed for pathogenic genetic variants of developmental delay and behavioural differences. Candidate variant in BCL11A gene was identified and further validated by Sanger sequencing.
RESULTS: A heterozygous variant, c.1442delA (p.Glu481Glyfs*25), was identified in exon 4 of the BCL11A gene through WES. This variant results in a truncated expression of the encoded protein. This de novo variant was confirmed by Sanger sequencing. The language delay and behavioural differences were prominent in our patient.
CONCLUSIONS: Our finding demonstrates that BCL11A variant may cause developmental delay and behavioural differences, expanding the genetic spectrum of the BCL11A gene.

UNASSIGNED: Developmental delay in children under 5 years old, which occurs globally with an incidence of 10%-15%, is caused by multiple factors including genetics, prenatal conditions, perinatal complications, postnatal influences, social factors, and nutritional deficiencies. Gene variants such as EFNB1, MECP2 and TRAPPC9 play a significant role in protein deformation and downregulation of nuclear factor κB (NF-κB) activity.
UNASSIGNED: A 3-year-old girl, who exhibits poor gross motor skills, personal-social development, auditory language, hand-eye coordination, and visual performance, was diagnosed with global developmental delay. Trio whole exome sequencing was conducted to identify the genetic etiology of her condition. The identified genetic etiology was then validated through Sanger sequencing and quantitative polymerase chain reaction (qPCR).
UNASSIGNED: Genetic analysis revealed that the patient had compound heterozygous variants in the TRAPPC9 gene. These include a c.1928del frameshift variant inherited from the unaffected father and a deletion in exon 12 inherited from the unaffected mother. According to the American College of Medical Genetics (ACMG) guidelines, these variants were classified as \"likely pathogenic\".
UNASSIGNED: The study revealed that compound heterozygous TRAPPC9 gene variants cause developmental delay in a Chinese girl. These variants have been classified as having significant pathogenic effect according to the ACMG criteria, suggesting a recessive genetic pattern and highlighting the importance of prenatal testing for future offspring. Furthermore, our findings expand the genotype spectrum of the TRAPPC9 gene, and provide more comprehensive information regarding genetic counseling for children experiencing developmental delay.