Tag: neurodevelopmental disorder

Categories : PaediatricsTags :

Neurodevelopmental Disorders Widespread in Extremely Preterm Babies

On By ModernMedia
Preterm baby
Photo by Hush Naidoo on Unsplash

An Acta Paediatrica analysis of data for extremely preterm babies (born before 24 weeks) found that most had neurodevelopmental disorders and/or other diagnoses during childhood and were referred for habilitational care.

In the Swedish study of 383 children from 2007 to 2018, 75% had neurodevelopmental disorders (including speech disorders, intellectual disabilities, attention deficit hyperactivity disorder, autism spectrum disorders, visual impairment, cerebral palsy, epilepsy, and hearing impairment).

More boys than girls had intellectual disabilities (45% versus 27%) and visual impairment (25% versus 14%). Fifty-five percent of children were referred for habilitation services, and 88% had additional diagnoses such as asthma and short stature.

“Due to improved medical care, an increasing number of extremely preterm infants survive. Our study shows that a large proportion of the most immature new survivors suffer from persisting somatic and neurodevelopmental disorders,” said senior author Ann Hellström, MD, PhD, of Gothenburg University.

A better understanding of the long-term consequences of preterm birth will assist clinicians and healthcare systems in optimising care. “Awareness of the lifelong needs of these children is also necessary for society at large to provide adequate resources and support for the tiniest of our children and their families,” said lead author Eva Morsing, MD, PhD of Lund University.

Source: Wiley

Categories : Genetics NeurologyTags :

Scientists Identify A New Recessive Neurodevelopmental Disorder

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Image source: Pixabay

In the Journal of Clinical Investigation, researchers have reported a rare neurodevelopmental condition characterised by intellectual disability, ataxia with cerebellar hypoplasia and delayed puberty with hypogonadotropic hypogonadism (HH).

Patients with this unusual combination of conditions were referred to Mehul Dattani (UCL), and affected individuals were found to carry the same homozygous mutation in the PRDM13 gene, which encodes a chromatin modifying factor that contributes to regulating cell fate. Intriguingly, an unaffected heterozygous carrier of this mutation was identified by screening 42 unaffected individuals in the Maltese population, suggesting that this mutation is present at low levels in the population.

The researchers set out to model this condition and identify the underlying causes using a PRDM13-deficient mouse model. The researchers found evidence that both the cerebellar hypoplasia and reproductive phenotypes resulted from defects in the specification of specific populations of GABAergic neuronal progenitors in the developing cerebellum and hypothalamus, respectively.

The results indicate that this condition results from abnormal cell fate specification during development. Consequently, the hypoplastic cerebellum is deficient in molecular layer interneurons, which play critical roles in regulating cerebellar circuits. In the hypothalamus, fewer Kisspeptin neurons, which are important regulators of gonadotropin releasing hormone and puberty, were present in PRDM13 mutant mice.

Together, these findings identify PRDM13 as a critical regulator of neuronal cell fate in the cerebellum and hypothalamus, providing a mechanistic explanation for the co-occurrence of hypogonadism and cerebellar hypoplasia in this syndrome.

Source: King’s College London