A Preterm Newborn in “the Barrel Syndrome”

Publication date: Available online 8 February 2017
Source:Pediatric Neurology
Author(s): Bárbara Muñoz Amat, Sara Vázquez Román, Carmen Gallego Herrero, Noemí Núñez-Enamorado, Óscar Toldos González, Carmen R. Pallás Alonso




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Growth and psychological development in post-operative patients of anterior encephaloceles

Publication date: Available online 8 February 2017
Source:Pediatric Neurology
Author(s): Hemonta K. Dutta, C. Wachana Khangkeo, Kaberi Baruah, Debasish Borbora
PurposeAnterior encephaloceles are rare malformations frequently associated with other brain anomalies. This study evaluates the growth and psychological development of children following encephalocele repair.Materials & methodsGrowth and psychological assessment was done in 24 children with only encephalocele (group-I), 9 children with encephalocele and hydrocephalus (group-II), 7 children with encephalocele, hydrocephalus and secondary malformations (group-III) and 40 apparently healthy controls. Psychological assessment was done by evaluating intelligence and temperament.ResultsSingle-stage repair was performed in 38 children, 2 underwent multistage repair. Major post-operative complications were noted in 3 patients. The follow-up period ranged from 12 to 168 months, during which the growth velocity declined significantly among group-II and group-III patients when compared to controls. After age-adjusting body mass index (BMI), our data revealed that group-III participants had a significantly (p=0.02) lower BMI than the control group. Group III also had poor indices for intelligence quotient (IQ) (p≤0.01) and temperament (p≤0.01). Female patients had lower temperament indices as compared to unaffected females- approach withdrawal (p≤0.01), mood (p=0.026) and intensity (p=0.03). Overall, increased disease severity adversely affected psychological indices.ConclusionAnterior encephalocele patients without associated intracranial defects had excellent post-operative outcomes in terms of growth and psychological developments. Hydrocephalus and agenesis of corpus callosum had least impact on the psychological development. However the presence of secondary brain defects led to developmental delays. Gender differences in temperament explains the need for distinct treatment regimen to assess psychosocial well-being for male and female cases.



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Outcomes of diagnostic exome sequencing in patients with diagnosed or suspected autism spectrum disorders

Publication date: Available online 8 February 2017
Source:Pediatric Neurology
Author(s): Mari Rossi, Dima El-Khechen, Mary Helen Black, Kelly Farwell Hagman, Sha Tang, Zoe Powis
BackgroundExome Sequencing has recently proven to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date.Materials and MethodsWe performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (ASD; 66.3%) or autistic features (33.7%).ResultsThe diagnostic yield observed in patients in our cohort was 25.8% (42/163) for positive/likely positive findings in characterized disease genes, while a candidate genetic etiology was reported for an additional 3.3% (4/120) of patients. Among the positive findings in the patients with ASD or autistic features, 61.9% were the result of de novo mutations. Patients presenting with psychiatric conditions or ataxia and/or paraplegia in addition to ASD or autistic features were significantly more likely to receive positive results compared to patients without these clinical features (95.6% vs. 27.1%, p <0.0001 83.3% vs. 21.2%, p <0.0001respectively). The majority of the positive findings were in recently identified ASD genes, supporting the importance of diagnostic exome sequencing for patients with ASD or autistic features as the causative genes might evade traditional sequential or panel testing.ConclusionsThese results suggest that diagnostic exome sequencing would be an efficient primary diagnostic method for patients with ASDs or autistic features. Moreover, our data may aid clinicians to better determine which subset of patients with ASD with additional clinical features would benefit the most from diagnostic exome sequencing.



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Editorial Board and Masthead

Publication date: February 2017
Source:Pediatric Neurology, Volume 67





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Early-Onset Parkinsonism: Case Report and Review of the Literature

Publication date: February 2017
Source:Pediatric Neurology, Volume 67
Author(s): Ahmed Al-Rumayyan, Christine Klein, Majid Alfadhel
BackgroundEarly-onset parkinsonism can be caused by PTEN-induced putative kinase 1 (PINK1) gene defects and is usually characterized by an age of onset in the fourth decade of life, slow disease progression, resting tremor, rigidity, bradykinesia, postural instability, and levodopa-induced dyskinesia.MethodsWe evaluated a child with early-onset symptoms and performed a literature review for previously reported examples of children aged 18 years or less with PINK1 gene defects.ResultsWe describe a five-year-old boy with autosomal recessive early-onset parkinsonism caused by a homozygous missense mutation in the PINK1 gene. This is the youngest individual yet reported with early-onset parkinsonism.ConclusionPINK1-type of early-onset parkinsonism can occur in very young patients, and phenotypic expression of PINK1 mutations may depend on age of onset and ethnicity.



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Table of Contents

Publication date: February 2017
Source:Pediatric Neurology, Volume 67





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Meetings of Interest

Publication date: February 2017
Source:Pediatric Neurology, Volume 67





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