GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography.

Abstract: Gangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits. Regarding phenotype, GM1 and GM2-Gangliosidosis are divided into Infantile, Juvenile, and Adult. Materials & Methods: In this study, thirty-seven patients with GM1 and GM2-Gangliosidosis were referred to the neurology department of Mofid Children's Hospital in Tehran, Iran, whose disease was confirmed from September 2019 to December 2021. This study assessed age, sex, and developmental status before the onset of the disease, clinical manifestations, brain imaging, and electroencephalography. Results: 97.20% of patients were the result of family marriage. Approximately 80% of juvenile patients were developmentally normal before the onset of the disease. Developmental delay was more common among infantile GM1-Gangliosidosis than infantile GM2-Gangliosidosis, but in total, more than 50% of GM1&GM2-Gangliosidosis patients had reached their developmental milestone before the onset of the disease. With the onset of disease symptoms, 100% of patients regressed in terms of movement, 97.20% of them mentally, and 75% of them had seizures during the disease. The most common clinical findings were cherry-red spot, Mongolian spot, macrocephaly, organomegaly, hyperacusis, and scoliosis. The most common brain imaging findings included bilateral thalamus involvement, brain atrophy, PVL, and delayed myelination. The most common finding in electroencephalography was background low voltage with abnormal sharp waves. Conclusion: This study concluded that most of the patients are the result of family marriage, and most of the juvenile patients are developmentally normal before the onset of the disease. In addition, more than 50% of infantile patients reach their developmental milestones before the onset of the disease. The most common clinical findings of these patients are seizures, cherry-red spot, macrocephaly, hyperacusis, Mongolian spot, and bilateral involvement of the thalamus.

Effects of Pediatric Rehabilitation on Children With Spastic Quadriplegia Primary to Seizure Disorder and Global Developmental Delay: A Case Report.

The most severe form of spastic cerebral palsy (CP), which affects the arms and legs and often the face, is known as spastic quadriplegia. In addition to other developmental disabilities such as intellectual disability and seizures, it can cause difficulty in walking. Children with CP often have seizures as a result of brain injury, and spastic quadriplegic CP is typically associated with global developmental delay. For the purpose of addressing the unique motor and functional challenges associated with spastic quadriplegia, neurophysiotherapy is essential. This treatment includes neurodevelopmental techniques, posture and balance training, and activities aimed at improving gait. The purpose of this case study is to demonstrate how early and continuous physical therapy interventions can maximize a child's functional abilities and prevent further complications. In this instance, a five-year-old boy with a documented history of spastic quadriplegia, seizure disorder, and global developmental delay reported experiencing challenges with sitting, walking, and speech. He had three episodes of fever, which led to his hospital admission. The child's medical history included acute hemorrhagic encephalitis, mild hydroureteronephrosis on the left side, and persistent convulsions that affected only one side of the body. Bilateral thalamic altered signal intensities were observed in the brain's MRI, and multiple calcifications were detected in the periventricular cortex, thalamus, and basal ganglia on the brain's CT scan. To enhance the independence, strength, and coordination of voluntary movement in individuals with CP, a variety of techniques are used in addition to physical therapy, such as occupational therapy, speech therapy, aquatic therapy, constraint-induced movement therapy, functional electrical stimulation, orthotic devices, injections of botulinum toxin, and hippotherapy.

Prevalence and determinants of developmental delay among children in low- and middle-income countries: a systematic review and meta-analysis.

Background: Developmental delay is a public health problem in low- and middle-income countries. However, there is no summarized evidence in low- and middle-income countries on developmental delay, and primary studies on this issue show varied and inconclusive results. This systematic review and meta-analysis aimed to assess the pooled magnitude of confirmed developmental delay and its determinants among children in low- and middle-income countries. Methods: We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines to write this systematic review and meta-analysis. Primary studies were searched from PubMed, PsycINFO, Hinari, Science Direct, African Journal of Online, Web of Science, and Google Scholar databases. The Newcastle-Ottawa Scale, adapted for the cross-sectional studies, was used to assess the quality of the included studies. Heterogeneity and publication bias were assessed by the I2 and Eggers tests, respectively. Due to the high heterogeneity, the random effects model was used for analysis. Odds ratios (ORs) with 95% confidence intervals (CIs) were used to show the association between developmental delay and its determinants. Results: The pooled prevalence of confirmed developmental delay was 18.83, 95% CI (15.53-22.12). In the subgroup analysis, a high prevalence of developmental delay [26.69% (95% CI, 15.78-37.60)] was observed in studies performed in Africa. Maternal education [3.04; 95% CI (2.05, 4.52)] and low birth weight [3.61; 95% CI (1.72, 7.57)] were significant determinants of developmental delay. Conclusion: The pooled prevalence of developmental delay in low- and middle-income countries was high as compared to that in high-income countries. Maternal education level and weight at birth were significantly associated with developmental delays. Therefore, strategies should be designed to decrease the rate of low birth weight and the number of illiterate mothers living in low- and middle-income countries. Systematic review registration: PROSPERO, CRD42024513060.

Infantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report.

Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagmus (which the mother described as wandering eye movements), splenomegaly of 16 cm and hepatomegaly of 8 cm. Investigations demonstrated severe anaemia (5.7 g/dL) and thrombocytopenia (34 x 109/L). Radiological signs which help in the diagnosis include diffuse sclerosis, bone within bone appearance, sandwich vertebrae and Erlenmeyer flask deformity. Plain radiography is an easily available and cost effective tool which can aid in the diagnosis of osteopetrosis.

Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay.

We are documenting the case of An 11-year-old girl who has been followed up at our out-patient clinic since birth with clinical presentations including intrauterine growth restriction, recurrent periodic fever in infancy, hypotonia, global developmental delay, liver function impairment with cirrhotic changes, and clinodactyly. Congenital abnormalities were suspected but a series of examinations including brain MRI, liver biopsy and muscle biopsy yielded insignificant findings. Whole genome sequencing (WGS) was conducted and revealed three novel mutations (c2T > G, c1826T > C, c.556-560delAGTAAinsCT) of the COG5 gene. A diagnosis of COG5-congenital disorders of glycosylation (COG5-CDG, or CDG IIi), with neurologic presentation was established. Sanger sequencing in the patient and her parents confirmed the compound heterozygous mutation. Upon literature review, we identified the patient as the first case of COG5-CDG in Taiwan. Our study enhances the clarity of the correlation between the mutative genes and the presentation of COG5-CDG.

Novel compound heterozygous variants in the CSPP1 gene causes Joubert syndrome: case report and literature review of the CSPP1 gene's pathogenic mechanism.

Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcephaly, seizures, developmental delay and language regression, caused by a CSPP1 gene variant and examines the contributing variables. This paper advances the understanding of JS by summarizing the literature and offering detection patterns for practitioners with clinical suspicions of JS.

The behavioral phenotype of children and adolescents with attenuated non-ketotic hyperglycinemia, intermediate to good subtype.

AIM: We aim to describe the behavioral phenotype of children and adolescents with the good to intermediate attenuated form of non-ketotic hyperglycinemia (NKH) and to explore associations between the behavioral phenotype and age, sex, plasma glycine levels and drug treatment. METHOD: Parents of children with attenuated NKH completed questionnaires assessing maladaptive behavior, adaptive behavior, social communication, speech/language development and motor development in addition to demographic and medical questions. RESULTS AND INTERPRETATION: Twelve children, age 6 to 21y, functioned at mild to severe intellectual disability levels. Their speech/language development was in line with their developmental quotient. Relative to their intellectual functioning, their motor development and communication were weaker in comparison to their general development. Their adaptive behavior, however, appeared a relative strength. There was no evidence for autism spectrum disorder occurring more frequently than expected, rather social skills, except for communication, were rated as a relative strength. Maladaptive behaviors with ADHD-like characteristics were present in more than two thirds of children. Maladaptive behaviors were significantly related to female sex and to taking dextromethorphan, but no significant relation between plasma glycine levels and behavior was found. Future studies will need to evaluate causality in the observed relation between dextromethorphan use and maladaptive behaviors. Clinicians should reconsider the benefit of dextromethorphan when presented with disruptive behaviors in children with attenuated NKH.

Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1.

Pontocerebellar Hypoplasia (PCH) is a rare autosomal recessive hereditary neurological degenerative disease. To elaborate upon the clinical phenotypes of PCH and explore the correlation between TOE1 gene mutations and clinical phenotype, we analyze the clinical and genetic features of a Chinese infant afflicted with pontocerebellar dysplasia accompanied by gender reversal with bioinformatics methods. The main clinical features of this infant with TOE1 gene mutation included progressive lateral ventricle widening, hydrocephalus, severe postnatal growth retardation, and hypotonia, and simultaneously being accompanied by 46, XY female sex reversal. Whole exome sequencing revealed a compound heterozygous mutation in the TOE1 gene (c.299T > G, c.1414T > G), with the protein homology modeling-generated structure predicting a pathogenic variation, which is closely related to the clinical manifestations in the patient. The new mutation sites, c.299T > G and c.1414T > G, in the TOE1 gene are pathogenic variants of pontocerebellar hypoplasia type 7.

Comparing fine motor performance among young children with autism spectrum disorder, intellectual disability, attention-deficit/hyperactivity disorder, and specific developmental disorder of motor function.

Objective: The acquisition of fine motor skills is considered to be a crucial developmental milestone throughout early childhood. This study aimed to investigate the fine motor performance of young children with different disability diagnoses. Methods: We enrolled a sample of 1,897 young children under the age of 6 years who were at risk of developmental delays and were identified by a transdisciplinary team. A series of standardized developmental assessments included the Bayley Scales of Infant Development-Third Edition, Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition, Peabody Developmental Motor Scale-Second Edition, and Movement Assessment Battery for Children-Second Edition were used. Retrospective chart reviews were conducted on all children to identify specific developmental disorders. The number of autism spectrum disorder (ASD), intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), comorbidity, motor dysfunction, and unspecified developmental delays (DD) were 363 (19.1%), 223 (11.8%), 234 (12.3%), 285 (15.0%), 128 (6.7%), and 590 (31.1%), respectively. Results: Young children with ID, comorbidity, and motor dysfunction demonstrated significant difficulty in performing manual dexterity and visual motor integration tasks and scored significantly lower in these areas than children with ASD, ADHD, and unspecified DD. In addition, fine motor performance was associated with cognitive ability in children with different disability diagnoses, indicating that young children showed better fine motor performance when they demonstrated better cognitive ability. Conclusion: Our findings support that differences in fine motor performance differ by disability type. Close links between fine motor performance and cognitive ability in children under the age of 6 years were seen in all disability types.

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data. In this multinational retrospective observational study, we systematically analyse the molecular spectrum, phenotypic characteristics, and natural history of 83 individuals from 75 unique families with IGDs, including 70 newly reported individuals: the largest single cohort to date. Core clinical features were developmental delay or intellectual disability (DD/ID, 90%), seizures (83%), hypotonia (72%), and motor symptoms (64%). Prognostic and biologically significant neuroimaging features included cerebral atrophy (75%), cerebellar atrophy (60%), callosal anomalies (57%), and symmetric restricted diffusion of the central tegmental tracts (60%). Sixty-one individuals had multisystem involvement including gastrointestinal (66%), cardiac (19%), and renal (14%) anomalies. Though dysmorphic features were appreciated in 82%, no single dysmorphic feature had a prevalence >30%, indicating substantial phenotypic heterogeneity. Follow-up data were available for all individuals, 15 of whom were deceased at the time of writing. Median age at seizure onset was 6 months. Individuals with variants in synthesis stage genes of the GPI-AP exhibited a significantly shorter time to seizure onset than individuals with variants in transamidase and remodelling stage genes of the GPI-AP (P=0.046). Forty individuals had intractable epilepsy. The majority of individuals experienced delayed or absent speech (95%); motor delay with non-ambulance (64%); and severe-to-profound DD/ID (59%). Individuals with a developmental epileptic encephalopathy (51%) were at greater risk of intractable epilepsy (P=0.003), non-ambulance (P=0.035), ongoing enteral feeds (P<0.001), and cortical visual impairment (P=0.007). Serial neuroimaging showed progressive cerebral volume loss in 87.5% and progressive cerebellar atrophy in 70.8%, indicating a neurodegenerative process. Genetic analyses identified 93 unique variants (106 total), including 22 novel variants. Exploratory analyses of genotype-phenotype correlations using unsupervised hierarchical clustering identified novel genotypic predictors of clinical phenotype and long-term outcome with meaningful implications for management. In summary, we expand both the mild and severe phenotypic extremities of the IGDs; provide insights into their neurological basis; and, vitally, enable meaningful genetic counselling for affected individuals and their families.

Early-Onset Epileptic Encephalopathy Responsive to Phenytoin: A Diagnostic Clue for Fibroblast Growth Factor 12 Mutation.

We present a case of a three-year-old girl with a rare genetic epilepsy with developmental delay. She was born to a non-consanguineous parentage and required resuscitation soon after delivery via cesarean section. The patient had her first seizure within 36 hours of life, which progressed into refractory epilepsy. She required multiple hospital admissions due to prolonged seizures. Despite being tried on multiple drug combinations over the years, she responded only to phenytoin. Basic imaging and other investigations, including genetic analysis, revealed a fibroblast growth factor 12 (FGF12) mutation. Mutations in these genes cause refractory early-onset seizures associated with severe developmental delay. Due to early and appropriate intervention with phenytoin, she had good seizure control which probably resulted in a better developmental outcome.

Developmental delay in preterm infants during the first twelve months after birth and its risk factors.

BACKGROUND: Developmental delay in preterm infants in different geographical areas has different risk factors. The present research was a large study aiming to assess developmental delay in preterm infants during the first 12 months after birth and its risk factors in northwest Iran (with multiethnic texture). MATERIALS AND METHODS: Eight hundred and seventy preterm infants (25 to 36 weeks; up to 12 months) were included in this descriptive-analytical study from the beginning of 2019 to the end of 2021 in northwest Iran by the convenient sampling method. Patients' basic and medical information was recorded in the data collection form, and the Ages and Stages Questionnaire (ASQ) was used to assess children's developmental status. RESULTS: The prevalence of developmental delay in this study was 26.4%. Regarding demographic characteristics such as age, height (at birth and one year of age), weight (at birth and one year of age), Apgar score (first and twentieth minutes), duration of ventilator connection, comorbidities and complications after birth, and breastfeeding during the first year of life, there was a statistically significant difference between the two groups of infants with and without developmental delay. Breastfeeding during the first 12 months after birth alone could have the power to predict developmental delay in preterm infants. CONCLUSION: Breastfeeding in the first year of life is considered one of the most important predictors of normal development in preterm infants. Therefore, encouraging the parents of these infants to breastfeed their infants at birth can be a positive step in improving the quality of life of these infants in the future.

Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing.

Niemann-Pick disease type C (NPC) is one of the lysosomal storage disorders. It is caused by biallelic pathogenic variants in NPC1 or NPC2, which results in a defective cholesterol trafficking inside the late endosome and lysosome. There is a high clinical variability in the age of presentation and the phenotype of this disorder making the diagnosis challenging. Here, we report a patient with an infantile onset global developmental delay, microcephaly and dysmorphic features, homozygous for c.3560C>T (p.A1187V) variant in NPC1. His plasma oxysterol levels were normal on two occasions. His lyso-sphingomyelin-509 (lyso-SM 509) and urinary bile acid levels were normal. Based on the phenotype and biochemical features, the diagnosis of NPC was excluded in this patient. We emphasize the importance of functional characterization in the classification of novel variants to prevent a misdiagnosis. Matching the phenotype and biochemical evidence with the molecular genomic tests is crucial for the confirmation of genetic diagnoses.

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

BACKGROUND: Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effect of variants of uncertain significance (VUS) based on recently published genetic data from the country's healthy population. METHODS: The study retrospectively analyzed WES or gene panel sequencing findings of 417 children with global developmental delay, intellectual disability, and/or other symptoms. Variants of uncertain significance were annotated using CADD-Phred and SIFT prediction scores, and their frequency in the healthy population of Ukraine was estimated. RESULTS: A definitive molecular diagnosis was established in 66 (15.8%) of the individuals. WES diagnosed 22 out of 37 cases (59.4%), while the neurodevelopmental gene panel identified 44 definitive diagnoses among the 380 tested patients (12.1%). Non-diagnostic findings (VUS and carrier) were reported in 350 (83.2%) individuals. The most frequently diagnosed conditions were developmental and epileptic encephalopathies associated with severe epilepsy and GDD/ID (associated genes ARX, CDKL5, STXBP1, KCNQ2, SCN2A, KCNT1, KCNA2). Additionally, we annotated 221 VUS classified as potentially damaging, AD or X-linked, potentially increasing the diagnostic yield by 30%, but 18 of these variants were present in the healthy population of Ukraine. CONCLUSIONS: This is the first comprehensive study on genetic causes of GDD/ID conducted in Ukraine. This study provides the first comprehensive investigation of the genetic causes of GDD/ID in Ukraine. It presents a substantial dataset of diagnosed genetic conditions associated with GDD/ID. The results support the utilization of NGS gene panels and WES as first-line diagnostic tools for GDD/ID cases, particularly in resource-limited settings. A comprehensive approach to resolving VUS, including computational effect prediction, population frequency analysis, and phenotype assessment, can aid in further reclassification of deleterious VUS and guide further testing in families.

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.

This study reports on biallelic homozygous and monoallelic de novo variants in SLITRK3 in three unrelated families presenting with epileptic encephalopathy associated with a broad neurological involvement characterized by microcephaly, intellectual disability, seizures, and global developmental delay. SLITRK3 encodes for a transmembrane protein that is involved in controlling neurite outgrowth and inhibitory synapse development and that has an important role in brain function and neurological diseases. Using primary cultures of hippocampal neurons carrying patients' SLITRK3 variants and in combination with electrophysiology, we demonstrate that recessive variants are loss-of-function alleles. Immunostaining experiments in HEK-293 cells showed that human variants C566R and E606X change SLITRK3 protein expression patterns on the cell surface, resulting in highly accumulating defective proteins in the Golgi apparatus. By analyzing the development and phenotype of SLITRK3 KO (SLITRK3-/-) mice, the study shows evidence of enhanced susceptibility to pentylenetetrazole-induced seizure with the appearance of spontaneous epileptiform EEG as well as developmental deficits such as higher motor activities and reduced parvalbumin interneurons. Taken together, the results exhibit impaired development of the peripheral and central nervous system and support a conserved role of this transmembrane protein in neurological function. The study delineates an emerging spectrum of human core synaptopathies caused by variants in genes that encode SLITRK proteins and essential regulatory components of the synaptic machinery. The hallmark of these disorders is impaired postsynaptic neurotransmission at nerve terminals; an impaired neurotransmission resulting in a wide array of (often overlapping) clinical features, including neurodevelopmental impairment, weakness, seizures, and abnormal movements. The genetic synaptopathy caused by SLITRK3 mutations highlights the key roles of this gene in human brain development and function.

Long- term outcomes of congenital tracheal stenosis after slide tracheoplasty.

PURPOSE: Long-term outcomes of slide tracheoplasty in patients with congenital tracheal stenosis (CTS) have rarely been reported. This study aimed to clarify the long-term outcomes of CTS after slide tracheoplasty. METHODS: The medical records of 33 patients who underwent slide tracheoplasty for CTS at our institution between January 2005 and July 2018, with a follow-up duration > 5 years, were retrospectively reviewed. Patients' characteristics, perioperative condition, operative management, postoperative course, tracheal stenosis rates and growth data, were collected from medical records. RESULTS: The median operative age, minimum tracheal diameter, length of stenosis, duration of hospital stays, and follow-up duration were 8 months, 2.4 mm, 35 mm, 39 days, and 90 months, respectively. One patient died of bleeding in the right lung at 126 months postoperatively. Among the 10 patients requiring postoperative tracheostomy, seven were successfully decannulated at a median of 65 months postoperatively. Tracheal stenosis rates improved postoperatively and were subsequently maintained. Growth impairment and psychomotor delay were observed in 9 and 16 patients, respectively with significant differences found only in cases with genetic abnormalities and not in tracheal stenosis severity. CONCLUSION: Slide tracheoplasty for CTS leads to favorable long-term outcomes. However, various associated anomalies may influence growth and psychomotor development, emphasizing the importance of adequate support.

Pre-Cycloplegic Exam Benefit of Photoscreening and Accommodation-Relaxing Skiascopy.

Background: Seeking a quick way to estimate refractions for challenging pediatric patients, we studied two non-contact methods with particular attention to accuracy and level of stress in uncovering cycloplegic hyperopia. Methods: Newly referred and follow-up pediatric eye patients had timed school bus accommodation-relaxing skiascopy (SBARS) and Plusoptix A12 (Px) photoscreener testing before cyclopentolate 1% confirmatory examinations. The ABCD ellipsoid univariate method based on relative blur and vector components was used to compare dry sphero-cylinder refraction estimates with cycloplegic. Receiver operating characteristic (ROC) curves were used to determine screening value. Results: Three compared refractions were attempted in 191 racially diverse children of whom 100 were age 0.2-3.9 years and 91 were 4 to 14 years. Plusoptix failed to yield a result in 21 and an additional 21 were interpreted as an excess sphere. Median spherical equivalent did not differ between Px and SBARS for 149 with Px readings but in hyperopic patients, Plusoptix uncovered 27% less hyperopia. The ellipsoid for SBARS of 0.8 was better than 2.4 for Plusoptix (Mann-Whitney p<0.001). Plusoptix was fastest (3-15 seconds) followed by SBARS (15-30 seconds) compared to 30-45 minutes for cycloplegic exam. Conclusion: Non-contact quick refractive methods enhanced confirmatory cycloplegic pediatric exam in high-risk pediatric patients.

A Case Report of Pediatric Rehabilitation for Hypoxic Ischemic Encephalopathy Associated With Global Developmental Delay.

Hypoxic ischemic encephalopathy (HIE) is a critical condition affecting neonates due to oxygen deprivation and insufficient flow of blood to the brain. It is associated with high neonatal mortality and the risk of developmental psychomotor disorders, including cerebral palsy. The global epidemiology of HIE reveals significant disparities, with more advanced healthcare systems reporting lower incidence rates. The aim of the study is to contribute to the understanding of effective rehabilitation strategies for children with HIE and global developmental delay (GDD), with the goal of improving outcomes and quality of life for these individuals. This case report focuses on an 11-month-old male child with a history of perinatal HIE, highlighting the developmental challenges and interventions undertaken. The child showed delayed gross and fine motor development, sensory awareness deficits, and postural coordination issues. A comprehensive physiotherapy intervention plan was implemented, resulting in significant improvements in post-treatment outcome measures. This case highlights the importance of early and holistic physiotherapy interventions in addressing HIE patients' developmental delays and improving their quality of life.

Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome.

Aicardi-Goutières syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. Despite a recognition of overall motor impairment, fine and visual motor skills are undercharacterized. We hypothesize that there is a spectrum of fine and visual motor skills in the Aicardi-Goutières syndrome population as captured by a standard outcome measure, the Peabody Developmental Motor Scales (PDMS-2), which will be proportional to overall disease severity.In a cohort of 74 subjects, the Peabody Developmental Motor Scales-2 grasping and visual-motor integration subtests were administered concurrently with the Aicardi-Goutières syndrome Severity Scale (severe [range 0-3], moderate [range 4-8], and attenuated [range 9-11]). The cohort was also compared by genotype and performance as defined by raw scores. The distribution of Peabody Developmental Motor Scales-2 scores within a genotype was assessed by interquartile ranges (IQRs).Peabody Developmental Motor Scales-2 grasping and visual-motor integration performance was the least variable in the TREX1-cohort (IQR: 10.00-12.00) versus the SAMHD1 and IFIH1 cohorts (IQR: 51.00-132.00 and 48.50-134.00, respectively). Neurologic severity highly correlated with both fine and visual motor skills (Spearman correlation: r = 0.87, 0.91, respectively). A floor effect (lowest 10% of possible scores) was observed within the severe cohort (n = 32/35), whereas a ceiling effect (top 10%) was observed in the attenuated cohort (n = 13/17).This study characterized the spectrum of fine and visual motor function in the Aicardi-Goutières syndrome population, which correlated with overall neurologic dysfunction. The Peabody Developmental Motor Scales-2 grasping and visual-motor integration showed promise as potential assessment tools in moderate and attenuated Aicardi-Goutières syndrome cohorts. A better understanding of fine and visual motor function in this population will benefit clinical care and clinical trial design.

Evaluating the association between duration of breastfeeding and fine motor development among children aged 20 to 24 months in Butajira, Ethiopia: a case-control study.

BACKGROUND: A Suitable environment and proper child nutrition are paramount to a child's physical and mental development. Different environmental factors contribute to proper child development. Breast milk is an important source of nutrition during the early years of life and contains essential nutrients that are the building blocks for growth and development. OBJECTIVE: To assess the association between the duration of breastfeeding and fine motor development among children aged 20 to 24 months living in Butajira, southern Ethiopia. METHOD: Community-based case-control study design was employed among mother-child dyads of children aged 20 to 24 months in Butajira Southern Ethiopia. Children were screened for fine motor delay using the Denver II developmental screening and identified as cases and controls. A repeated visit was done to gather the rest of the information and 332 samples, 83 cases, and 249 controls were available and assessed. Epi-data version 4.4.2.1 software was used to prepare a data entry template, which was later exported to and analyzed using STATA version 14 statistical software. Finally, a Multivariable logistic regression model was used to adjust for confounders and estimate the independent effect of breastfeeding duration on fine motor development. RESULT: We didn't find a significant association between the duration of breastfeeding from 21 to 24 months and fine motor delay compared to children who were breastfed less than 18 months[AOR: 0.86, 95% CI: (0.36, 2.05)]. Children who have mothers > 35 years of age were 78% less likely than children who had mothers younger than 25 years, Children who had mothers in secondary school and above were 77% less likely than mothers who didn't have formal education, Females were 1.86 times more likely than males, and Children who scored 20-29 on the Home score were 51% less likely than Children who scored < 20 to have fine motor delay. CONCLUSION: Duration of breastfeeding was not significantly associated with fine motor delay for children aged 20 to 24 months old. The age of the mother, the educational status of the mother, being female, and Home score were identified to have a significant association with fine motor delay. Improving the educational status and empowerment of women is essential. Further work should be done on avoiding gender differences starting from a young age and creating a conducive environment for child development is crucial.