Novel homozygous FRRS1L variant reported in Chinese girl with DEE37-related symptoms
A single-patient case report documents a novel homozygous FRRS1L variant in a Chinese girl with developmental delay, epilepsy, movement abnormalities, ...
Tag: developmental delay
Rwanda health worker survey reports childhood disability observations
A study of 358 Rwandan community health workers found that 63.6% reported observing at least one child with a physical ...
Rare Prenatal Duplication on Chromosome 16 Reveals a Genetic Puzzle With Mostly Reassuring Outcomes
A decade-long Chinese cohort study followed 19 fetuses with 16p13.11 microduplication and found that most children developed normally, highlighting the ...
Novel de novo CDKL5 variant identified in Iranian child with refractory epilepsy
Deep in the landscape of rare childhood epilepsy, a single genetic letter change can rewrite a child's life. Researchers in ...
Preterm Babies in Vietnam Face Rising Developmental Delay Risk in First Year, Study Finds
A prospective cohort study in Ho Chi Minh City found that nearly two-thirds of very and extremely preterm infants showed ...
Rare Genetic Syndrome Unmasked in Infant by Severe Kidney Reflux, Low Thyroid, and a Nighttime Seizure
A genetically confirmed case of Smith-Magenis syndrome in a nine-month-old boy links bilateral high-grade vesicoureteral reflux, congenital hypothyroidism, and a ...
Whole-Exome Sequencing Finds Genetic Answers in a Third of Complex Autism Cases
A retrospective study of 320 Turkish patients with autism found established molecular diagnoses in 32.5 percent of the cohort, with ...
Dialogic Reading Boosts Vocabulary and Engagement in Bengali-Speaking Preschoolers
A new single-case study finds that dialogic reading improved vocabulary, alphabetic knowledge, and behavioral engagement in Bengali-speaking preschool dual language ...
Rare Chromosome 19p13.3 Deletion Linked to Fatal Infant Heart and Gut Complications
A new case report describes a fatal infant case of 19p13.3 microdeletion syndrome featuring severe cardiomegaly, gastrointestinal complications, and a ...
Loss of a Single Protein Derails Brain Development and Drives Autism-Like Behavior in Mice
New research shows that the protein UBAP2L is essential for neural progenitor cell division, and that its loss in mice ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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