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. 2022 Feb 16;17(1):55.
doi: 10.1186/s13023-022-02218-8.

Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue

Elisabetta Indelicato  1 , Michael Zech  2   3 , Matthias Amprosi  4 , Sylvia Boesch  4
Affiliations

Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue

Elisabetta Indelicato et al. Orphanet J Rare Dis. .

Abstract

Background: The genetic landscape of neurodevelopmental disorders is constantly expanding and children with early-onset neurological phenotypes increasingly receive a genetic diagnosis. Nonetheless, the awareness of the chronic course of these conditions, and consequently their recognition and management in the adult population, is still limited.

Results: Herein, we describe four patients with rare neurodevelopmental disorders (SON, ZMYND11, DNMT1 and YY1-related diseases), who received a genetic assignment only in the adulthood. All these patients had an early developmental delay and displayed a movement disorder (dystonia/ataxia/tremor) which manifested for the first time, or worsened, in the adulthood, prompting the referral to a neurologist. This phenotypic combination led eventually to the genetic testing. We report previously unrecognized features and highlight the peculiarities of the adult presentation of four neurodevelopmental disorders.

Conclusions: This report expands the current knowledge on four rare neurodevelopmental disorders (SON, ZMYND11, DNMT1 and YY1), which was mainly based on reports from paediatric cases. This case series emphasize the importance of a tight neurological surveillance extending beyond the childhood.

Keywords: Developmental delay; Dystonia; Genetic diagnosis; Neurodevelopmental disease; Tremor.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Detected mutations in SON, ZMYND11, DNMT1 and YY1 and related brain imaging features. a Protein changes related to the described mutation in SON, ZMYND11, DNMT1 and YY1. b, c 1,5 Tesla brain MRI-Imaging from patient 2 (ZMYND11-related disease) showing global atrophy as well as turricephaly; b T1-axial sequence, c T2 dark-fluid coronal sequence. d, e 1,5 Tesla brain MRI-Imaging from patient 3 (YY1-related disease) showing a normal appearance of basal ganglia and multiple unspecific white matter lesions; T2 dark-fluid axial sequences
Fig. 2
Fig. 2
EEG recording in an adult patient with ZMYND11 disease. Routine scalp-EEG recording from patient 2 at the age of 34: Generalized slowing in theta-delta frequencies as well as multifocal spikes (arrows) are evident. Bipolar longitudinal montage with 70 Hz filter and time constant of 0.3 s; sensitivity 7 μV
See this image and copyright information in PMC

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