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Global developmental delay and mental retardation--a pediatric perspective
Emanuel Tirosh1, Michael Jaffe
1The Hannah Khoushy Child Development Center and The Bruce Rappaport Faculty of Medicine, The Technion, The Israeli Institute of Technology, Haifa, Israel. tirosh-e@b-zion.org.il
Insights
Pediatricians are key in diagnosing global developmental delay (GDD) and mental retardation (MR). An integrated approach using clinical evaluation and multidisciplinary teams is vital for effective management and addressing family needs.
Area of Science:
- Pediatric Neurology
- Developmental Pediatrics
- Child Health
Background:
- Global developmental delay (GDD) and mental retardation (MR) require early detection and management by pediatricians.
- Developmental pediatricians lead the assessment, investigation, and family consultation, often within a multidisciplinary team.
- Community health frameworks influence the models used for managing GDD and MR.
Purpose of the Study:
- To review the literature on clinical evaluation and laboratory work-up for children with GDD/MR.
- To emphasize a multidisciplinary team approach tailored to child and family needs.
- To propose an integrated model for evaluation, management, and understanding the diagnosis's impact.
Main Methods:
- Literature review focusing on clinical evaluation processes.
- Review of laboratory investigations including neuroimaging, genetic, and metabolic tests.
- Emphasis on a multidisciplinary team approach and family-centered care.
Main Results:
- Significant advancements have been made in identifying etiologies of GDD/MR through various tests.
- The diagnostic yield of investigations requires careful consideration of each test's value.
- In-depth clinical evaluation and assessment of child/family needs are crucial for optimal knowledge utilization.
Conclusions:
- An integrated model is proposed for developmental pediatricians, encompassing evaluation, management, and the broader consequences of diagnosis.
- Effective management hinges on balancing diagnostic investigations with thorough clinical assessment.
- A multidisciplinary, family-centered approach is essential for addressing the needs of children with GDD/MR.
Abstract:
Pediatricians play a leading role in the detection, diagnosis, and management of children with global developmental delay (GDD) and mental retardation (MR). Assessment, investigation, and consultation with the family are the prime responsibility of the developmental pediatrician, in collaboration with a multidisciplinary team. The model used by the developmental pediatrician depends on the community health framework. Significant progress has been recently achieved in identifying underlying etiologies, using a variety of laboratory tests including neuroimaging and genetic and metabolic investigations. Although being used to achieve an acceptable yield, this progress in diagnostic investigations should be associated with proper weighing of the value of each test to the diagnostic process. Optimal utilization of this rapidly expanding knowledge can only be accomplished in the setting of in-depth clinical evaluation, including a thoughtful assessment of the child and family needs. In this article, the literature on the process of clinical evaluation and laboratory work-up of the child with GDD/MR is reviewed, with an emphasis on a multidisciplinary team approach to the child and family needs. An integrated model used by the developmental pediatrician that relates to the process of evaluation and management as well as the consequences of the diagnosis on the child, his/her family, and the community is suggested.
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