Related Experiment Videos
Diagnostic approach in children with severely retarded psychomotor development of unknown origin
Insights
Diagnosing hereditary metabolic disorders in children with developmental delays requires specific strategies. Reevaluating psychomotor development after one year can identify improvement and avoid unnecessary extensive investigations.
Area of Science:
- Pediatrics
- Genetics
- Neurology
Background:
- Diagnosing hereditary metabolic disorders in children with severe developmental delays can be challenging.
- Identifying specific signs like a cherry red spot aids in diagnosis.
- Uncertain developmental stagnation complicates the diagnostic approach.
Purpose of the Study:
- To devise diagnostic strategies for children with severe developmental lag of unknown origin.
- To differentiate between hereditary metabolic disorders, chromosomal abnormalities, and structural brain abnormalities.
- To establish etiological and pathogenetic diagnoses in pediatric patients.
Main Methods:
- Retrospective study of 77 children with severe developmental lag.
- Clinical reexamination of patients after one year.
- Literature review on diagnostic approaches for developmental delays.
Main Results:
- Hereditary metabolic disorders were diagnosed in 12 children.
- Chromosomal or structural brain abnormalities were found in 5 children.
- 32 out of 55 reexamined children showed significant psychomotor improvement after one year.
Conclusions:
- Investigate chromosomal aberrations and structural brain abnormalities in children with multiple minor malformations.
- Perform metabolic studies when family history or characteristic signs are present.
- Reevaluate psychomotor development after one year; improvement may negate the need for extensive investigations.
Abstract:
In infants and children with severe motor and/or mental retardation combined with a loss of acquired skills or with characteristic signs, such as e.g. a cherry red spot in the fundus, it is easy to suspect the presence of a hereditary metabolic disorder and to undertake the appropriate investigations. The diagnostic approach is, however, more difficult in retarded children with an uncertain developmental stillstand. Our goal was to devise strategies of how to deal with these patients from a diagnostic point of view. We retrospectively studied 77 children affected by severe developmental lag of unknown origin and without any clear signs of improvement or regression. A diagnosis of a hereditary metabolic disorder could be established in 12 of these children. In 5 other children a chromosomal abnormality or a structural abnormality of cerebral development was detected. Sixty children remained without any aetiological or pathogenetic diagnosis; 55 of them could be reexamined clinically after one year, and 32 of these showed then a clear improvement of their mental and/or motor performance. From the individual analysis of the 77 patients and from literature we conclude that if a child presents multiple minor malformations, investigations should concentrate on chromosomal aberrations and on possible structural brain abnormalities. Metabolic studies should be performed if the same disease already occurs in the family and where characteristic signs are present. In children without such signs the psychomotor development should be reevaluated after one year. If after this year there is an improvement, there is no reason for starting extensive investigation.(ABSTRACT TRUNCATED AT 250 WORDS)