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Developmental disorders are a group of disorders in which the development of the central nervous system is disturbed. This can include developmental brain dysfunction, which can manifest as neuropsychiatric problems or impaired motor function, learning, language or non-verbal communication.
Using exome sequencing data from one of the largest cohorts of children with cerebral palsy, the genetic diagnostic rates of single-nucleotide and copy number variants were assessed and a sizeable fraction found to be clinically actionable.
Fragile X syndrome is a neurodevelopmental disorder with altered neuronal excitability and behavior. Here, the authors show that dysfunction of astroglial Kir4.1 potassium channels drives neuronal and behavioral impairments in a fragile X mouse model.
Signalling by the developmental morphogen BMP2 through the transcription factor SMAD1 has a key role in controlling the glutamatergic innervation of parvalbumin-expressing interneurons and maintaining the balance between excitation and inhibition in the mammalian cortex.
Using a longitudinal structural imaging design, the authors assessed cortical anatomy and genes linked to methylphenidate activity to identify treatment-associated responses in adults with attention deficit hyperactivity disorder.
The authors find that Piezo1 stimulation enhances meningeal lymphatics and boosts CSF drainage to treat hydrocephalus and ventriculomegaly, showing promise in Down syndrome and hydrocephalus models.
Neurointestinal diseases cause significant morbidity and effective treatments are lacking. Here, authors perform autologous cell transplantation of enteric neural stem cells in a mouse model of colonic aganglionosis and report restoration of colonic contractile activity.
Using a systems-level, multi-omics approach, we reveal several genes associated with arachnoid cysts and identify four phenotypic subtypes of arachnoid cysts, the severity of which correlates with the presence of protein-damaging de novo variants. All candidate genes are expressed in the developing brain and encode molecules implicated in chromatin modification or transcriptional regulation.
Current diagnostic criteria for learning disorders are insufficient because of ongoing COVID-19-related educational disruption. Diagnostic criteria for learning disorders should be modified to reduce the risk of misdiagnosis and ensure timely intervention.
Cortical–subcortical fusion organoids replicate complex features of human brain activity and are used to explore altered network function in Rett syndrome.
A mismatch between cell adhesion proteins at the mossy fibre synapse drives female-specific synaptic and cognitive dysfunction in a mouse model of developmental and epileptic encephalopathy 9.