Abstract
Purpose: Cerebral palsy (CP) is a heterogeneous permanent disorder impacting movement and posture. Investigations aimed at diagnosing this disorder are expensive and time-consuming and can eventually inconclusive. This study aimed to determine the diagnostic yield of next generation sequencing in patients with atypical CP (ACP).Methods: Patient eligibility criteria included impaired motor function with onset at birth or within the first year of life, and one or more of the following conditions: severe intellectual disability, positive family history, brain imaging findings not typical for cerebral palsy, abnormal neurometabolic profile, intractable seizure, normal neuroimaging despite severe psychomotor disability, after pediatric neurologist assessment including neuroimaging and biochemical-metabolic study offered for genetic study.Results: Exome sequencing was done for 66 patients which revealed pathogenic, likely pathogenic, and variants of unknown significance in 36.2, 9, and 43.9%, respectively. We also found 10 new mutations and were able to suggest specific and personalized treatments for nine patients. We also found three different mutations with different phenotypical spectrum in one gene that have not been reported for cerebral palsy.Conclusion: An accurate history and physical examination and determination of patients with atypical cerebral palsy for doing exome sequencing result in improved genetic counseling and personalized management.
Highlights
Cerebral palsy is a group of chronic neurodevelopmental disorders that is the most common cause of childhood physical disability and shows heterogeneity in all of its aspects including etiology, presentation, functional severity, comorbidities, treatment options, and outcomes [1,2,3,4]
In this report we present our experience with a group of patients who were assessed at our institution with neurodevelopmental disorders and initial diagnosis of CP, but in whom the condition was not associated with known perinatal complications or with the brain lesions commonly related to CP
The main goal of this work was to delineate the clinical manifestations, laboratory data and molecular findings of patients who are regarded as CP mimics or atypical CP, so that more targeted approaches to the diagnosis and management of this condition can be developed, and genetic counseling can further be provided to the families
Summary
Cerebral palsy is a group of chronic neurodevelopmental disorders that is the most common cause of childhood physical disability and shows heterogeneity in all of its aspects including etiology, presentation, functional severity, comorbidities, treatment options, and outcomes [1,2,3,4]. CP rates have remained the same for 50 years despite major advances in the obstetrics and neonatology It is seen in around 2–2.5 for every 1,000 births. In this report we present our experience with a group of patients who were assessed at our institution with neurodevelopmental disorders and initial diagnosis of CP, but in whom the condition was not associated with known perinatal complications or with the brain lesions commonly related to CP. Atypical CP included: full term neonate without history of perinatal and postnatal insult; absence of brain MRI finding compatible with neonatal asphyxia; progressive neurological deterioration; severe or profound intellectual disability; severe hypotonia opposite spasticity; positive family history of one or more affected relatives [8]. The main goal of this work was to delineate the clinical manifestations, laboratory data and molecular findings of patients who are regarded as CP mimics or atypical CP, so that more targeted approaches to the diagnosis and management of this condition can be developed, and genetic counseling can further be provided to the families
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