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Published on: September 27, 2020
Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder
Martinica Garofalo1,2, Fleur Vansenne2,3, Jessika F van Hoorn4
1Department of Pediatric Neurology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Insights
Initial neurological assessments are poor predictors for diagnosing developmental coordination disorder (DCD) in children. Many cases with alternative diagnoses have underlying genetic causes, suggesting a need for neurogenetic testing.
Area of Science:
- Pediatric Neurology
- Developmental Pediatrics
- Clinical Genetics
Background:
- Developmental Coordination Disorder (DCD) affects motor skills in children.
- Accurate diagnosis is crucial for timely intervention.
- Predicting DCD diagnosis from initial assessments remains challenging.
Purpose of the Study:
- To evaluate the predictive accuracy of initial neurological phenotypical assessment for DCD diagnosis.
- To compare clinical and diagnostic parameters in children with DCD versus alternative diagnoses.
Main Methods:
- Retrospective cohort study of 50 children evaluated for DCD.
- Analysis of medical records from a Pediatric Neurology Outpatient Clinic.
- Calculation of predictive values for DCD and alternative diagnoses.
Main Results:
- 62% of children were diagnosed with DCD, 38% with an alternative diagnosis.
- Positive predictive value for DCD was 52%; for alternative diagnoses, 21%.
- No statistically significant distinguishing parameters were found between groups.
Conclusions:
- Initial neurological phenotypical assessment is insufficient for predicting DCD diagnostic outcomes.
- High prevalence of genetic aetiologies in alternative diagnoses warrants further investigation.
- Recommend additional neurogenetic assessment for children evaluated for DCD.
Aim:
To investigate whether initial neurological phenotypical assessment can predict the diagnostic outcome in children potentially fulfilling the criteria for developmental coordination disorder (DCD).
Method:
In this cohort study, we retrospectively investigated the medical records of 50 children potentially fulfilling the DCD criteria, referred to the Pediatric Neurology Outpatient Clinic of the University Medical Center Groningen, the Netherlands, between 2016 and 2022. On the basis of the reported diagnosis after diagnostic evaluation, the included children were retrospectively assigned either to a DCD or an alternative diagnosis group. We calculated predictive values on the basis of the initially suspected and finally reported diagnosis. We statistically compared clinical and diagnostic parameters (n = 51) between the DCD and alternative diagnosis groups.
Results:
Sixty-two per cent of patients received a diagnosis of DCD (n = 31 out of 50) and 38% of the patients received an alternative diagnosis (n = 19 out of 50). An underlying genetic aetiology was exposed in 58% of patients with alternative diagnoses (n = 11 out of 19). The positive predictive value for DCD was 52% and for alternative diagnoses 21%. There were no statistically distinguishing parameters between both groups.
Interpretation:
In children potentially fulfilling the DCD criteria, initial neurological phenotypical assessment is insufficiently predictive of the diagnostic outcome. With the perspective of lacking distinctive features between DCD and alternative diagnoses and the high prevalence of underlying genetic mutations, additional neurogenetic assessment is recommended.
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