SLPCohortDevelopmental medicine and child neurology2026

Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A.

Alice Kuhn, Maren Hackenberg, Anna-Lena Klauser and 7 others

PMID 40665551

WHAT IT FOUND

PCH2A children start near typical height and weight, then fall behind; head size was below typical from birth.

Growth charts from 65 patients give a reference for this pattern. Families said PEG tubes made eating less stressful, but weight gain varied.

Key findings

01Disease-specific growth charts for PCH2A were built from 65 participants and 643 height, 708 weight, 440 BMI, and 600 head circumference measurements.

02Head circumference was below reference values at birth, while height and weight were not; height, weight, and BMI later diverged below typical growth.

03PEG tube feeding showed only limited effect on weight gain in individual participants, and families reported less stressful eating, reduced meal pressure, and easier medication administration.

STILL TO COME

How it was doneWhat they foundWhat it means for SLPs

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What it does not show

The cohort was small, with 65 participants and seven missing follow-up data, so comparisons, especially between PEG-fed and non-PEG-fed children, were limited. Measurements came from different health professionals and parents, and the instruments used were not recorded, so standardization was limited. Caloric intake was calculated or estimated by parents without standard software, so diet details are not fully comparable. Most data were collected in the first 2 years of life, and only few measurements were available after 15 years, so centiles in older children are less secure. The cohort was mostly German and included nine sibling pairs, and it was compared with a German reference group, so results may not apply to other populations. The researchers did not correct for multiple comparisons, so some significant differences may be chance. The charts describe care reality in one cohort, not an ideal growth target.

Declared interests

The Chan Zuckerberg Initiative funded the study. No additional conflict-of-interest declaration was included in the supplied text.

The easy way to misread this

Do not treat these centiles as ideal growth or conclude that PEG feeding fixes weight gain. They describe what happened in a small PCH2A cohort, and weight gain did not follow one pattern in participants with PEG feeding.

Summarised by AI from the full paper, without a clinician reviewing it. Check it against the source before it changes what you do. Read it on PubMed →