Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012.
Eur J Paediatr Neurol
; 19(6): 679-87, 2015 Nov.
Article
in En
| MEDLINE
| ID: mdl-26228846
ABSTRACT
BACKGROUND/PURPOSE:
Rett syndrome (RTT) is a neurodevelopmental disorder that affects mainly females; it results in multiple disabilities and carries a risk of medical comorbidities. Early diagnosis is important to help establish the best treatment opportunities and preventive care in order to slow down the progression of symptoms. We wanted to test our hypothesis that it is possible to diagnose RTT before the classical symptoms become obvious.METHODS:
We analysed development and symptoms before and at the time of the RTT diagnosis, as well as the symptoms that triggered MECP2 mutation analysis, in a cohort of girls with RTT born in Denmark between 2003 and 2012.RESULTS:
Twenty-four girls were included, and 87.5% of these girls were diagnosed when the classical RTT symptoms were recognized. However, parents were concerned about their daughters between 3 and 58 months prior to the RTT diagnosis, and they felt that the professionals did not share their concern in the beginning. When reviewing medical files and questionnaires, we noted that the majority of girls did have combinations of concerning symptoms such as developmental delay and a collection of subtle signs such as autistic traits, placidity, floppiness with suspicion of muscular or mitochondrial diseases, hair pulling, teeth grinding, development of incontinence and problems with initiating movements.CONCLUSION:
We conclude that many individuals with MECP2 mutation exhibit characteristics that should raise suspicion for RTT, prior to evolution of the core clinical criteria. As RTT is a rare disease, it is of importance to constantly educate clinicians for heightened awareness of RTT.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Rett Syndrome
/
Early Diagnosis
Type of study:
Diagnostic_studies
/
Screening_studies
Limits:
Adolescent
/
Child
/
Child, preschool
/
Female
/
Humans
Country/Region as subject:
Europa
Language:
En
Journal:
Eur J Paediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2015
Document type:
Article
Publication country:
ENGLAND
/
ESCOCIA
/
GB
/
GREAT BRITAIN
/
INGLATERRA
/
REINO UNIDO
/
SCOTLAND
/
UK
/
UNITED KINGDOM