March 3, 2026

Persistent tachypnoea of infancy (PTI/NEHI) and obesity in SRRM2 -related developmental disorder

Key Points

PTI is associated with obesity and neurodevelopmental delay in documented cases.
221 individuals with PTI were tracked for insights on outcomes linked to SRRM2.
The analysis focuses on the relationship between SRRM2 haploinsufficiency and developmental issues.
Health concerns in this population indicate the need for targeted interventions in early life.

Abstract

Extract Within the chILD-EU register, we are longitudinally following 221 individuals with persistent tachypnoea of infancy (PTI, also referred to as neuroendocrine cell hyperplasia of infancy (NEHI)) diagnosed by a multidisciplinary team specialised in childhood interstitial lung disease (chILD) 1. Since its description in 2022, SRRM2-haploinsufficiency has been associated with neurodevelopmental delay (NDD), obesity 2–6 and, in at least one case, the PTI/NEHI phenotype 3.

Persistent tachypnoea of infancy (PTI/NEHI) and obesity in SRRM2 -related developmental disorder

Key Points

Abstract

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