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Indelicato, E.* ; Zech, M. ; Amprosi, M.* ; Boesch, S.*

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

Orphanet J. Rare Dis. 17:55 (2022)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Developmental Delay ; Dystonia ; Genetic Diagnosis ; Neurodevelopmental Disease ; Tremor; Intellectual-disability; Dnmt1; Zmynd11; Gene; Son; Mutations; Variants; Yy1
Sprache englisch
Veröffentlichungsjahr 2022
HGF-Berichtsjahr 2022
ISSN (print) / ISBN 1750-1172
e-ISSN 1750-1172
Zeitschrift Orphanet Journal of Rare Diseases : OJRD
Quellenangaben Band: 17, Heft: 1, Seiten: , Artikelnummer: 55 Supplement: ,
Verlag BioMed Central
Verlagsort London
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503200-001
DOI 10.1186/s13023-022-02218-8
WOS ID WOS:000756819400005
Scopus ID 85124779676
PubMed ID 35172867
Erfassungsdatum 2022-06-28
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