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Categories: Birth Defects, Eating Disorders

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The world's largest study of cerebral palsy (CP) genetics has discovered genetic defects are most likely responsible for more than a quarter of cases in Chinese children, rather than a lack of oxygen at birth as previously thought.

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Researchers have discovered in a preclinical model that cytokines, proteins that control immune response, circulating in maternal blood during pregnancy may mitigate an offspring's risk for psychiatric conditions. The findings are surprising because circulating maternal cytokines are at such low levels that they were not implicated in fetal brain development and offspring behavior before.

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In a proof-of-concept study, researchers demonstrated the effectiveness of a potential new therapy for Timothy syndrome, an often life-threatening and rare genetic disorder that affects a wide range of bodily systems, leading to severe cardiac, neurological, and psychiatric symptoms as well as physical differences such as webbed fingers and toes.

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Clarifying the cause of a skin disease led to the discovery of a new disease-causing gene, a new category of diseases, and new perspectives for both counseling and therapy. The discovery is the first time that epigenetic silencing, the 'switching off' of an otherwise intact gene, has been recognized as the cause for a skin disease.

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Researchers have identified a variant in the gene TBX1 as key in the development of the unique morphology at the base of the skull. TBX1 is present at higher levels in humans than in closely related hominins. Low TBX1 also occurs in certain genetic conditions causing altered skull base morphology. This study provides a greater understanding of human disease and evolution.

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Adults with congenital heart defects were more likely to experience an abnormal, irregular heartbeat, finds a new study.

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When the brain has trouble filtering incoming information and predicting what's likely to happen, psychosis can result, research shows.

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Researchers have discovered the connection between aldehydes, organic compounds produced by cells as part of metabolic processes, and rapid aging. Their findings indicate a potential treatment for diseases that lead to accelerated aging as well as a means to counteract aging in healthy people by controlling exposure to aldehyde-inducing substances including alcohol, pollution, and smoke.

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Researchers offer insights into the ethical dilemmas and legal complexities surrounding brain organoids, especially those derived from human fetal tissue. Their findings advocate for thorough regulatory frameworks to ensure that scientific and medical progress in this field is conducted responsibly and ethically, with strong regulations supported by sound ethical and legal principles.

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Scientists report that a progressive neurodegenerative disease can be triggered by a viral infection. The mechanism relates to mitochondrial roles in antiviral defense mechanisms.

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Researchers have found that even low to moderate alcohol use by pregnant patients may contribute to subtle changes in their babies' prenatal development, including lower birth length and a shorter duration of gestation.

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A recent collaborative study has discovered rare variants in the YKT6 gene as the cause of a new neurological disorder characterized by developmental delays along with severe progressive liver disease and a potential risk for liver cancer.

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An analysis of how synaptic proteins change during early development reveals differences between mice and marmosets but also what's different in individuals with autism spectrum disorders. The findings offer first insights into the mechanism behind synaptic development and open up routes for research on possible treatments.

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An analysis of how brains with different forms of autism develop has revealed common underlying mechanisms that may respond to existing medications.

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Psychologists have discovered a circuit in the brain of mice that makes them crave food and seek it out, even when they are not hungry. When stimulated, this cluster of cells propels mice to forage vigorously and to prefer fatty and pleasurable foods like chocolate over healthier foods like carrots.

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The use of antipsychotics during pregnancy isn't linked to childhood neurodevelopmental disorders or learning difficulties, study suggests -- giving assurance to those concerned about continuing their medications during pregnancy.

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A rigorous analysis of numerous studies concludes that a part of the brain traditionally associated with movement is abnormal in children with developmental language impairments. The discovery has the potential to improve both the diagnosis and treatment of the language difficulties.

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A recent study links the FRYL gene to a new neurodevelopmental disorder in humans. They used fruit flies to establish that the loss of a functional copy of the FRY-like transcription coactivator (FRYL) gene is the underlying cause of this new disorder in fourteen individuals.

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Defects in the blood vessel network of the central nervous system have been linked to early symptoms of neurodegenerative diseases such as Alzheimer's disease and amyotrophic lateral sclerosis (ALS). It is this complex vascular network that provides the necessary nutrients -- especially glucose and oxygen -- to activate all neuronal functions. A new study reveals that the TDP-43 protein is essential for forming a stable and mature blood vessel network in the central nervous system.

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A team of international researchers has demonstrated, for the first time in a field study, that using folic acid-fortified iodized table salt can prevent multiple severe birth defects.