Epilepsy and attention-deficit hyperactivity disorder (ADHD) were reported to co-occur at rates higher than expected for coincidental findings. This study investigated the prevalence of both disorders in community-based primary care practice. The central database of the second-largest health maintenance organization in Israel was searched for all children aged 6 to 13 years (n = 284 419; 51.5% males) diagnosed as having ADHD according to the physicians' records and/or the filling of at least 10 prescriptions for antiepileptic medications according to pharmacy records. The prevalence of epilepsy in the total population was 5 out of 1000 children, and the prevalence of ADHD was 12.6%. More than one-fourth (27.7%) of the epileptic children were also diagnosed as having ADHD. On multivariate analysis, children with ADHD had almost twice the risk of epilepsy than children without ADHD. This study supports hospital-based findings of a strong interrelationship between ADHD and epilepsy. The high rate of ADHD in Israeli children warrants further investigation.
We describe two pairs of siblings from a consanguineous family manifesting autosomal recessive hereditary spastic paraplegia caused by a novel mutation in the EXOSC3 gene, previously reported in pontocerebellar hypoplasia type 1. Clinical findings included delayed motor milestones, early-onset spastic paraplegia, variable cognitive disability, and cerebellar signs. Cerebral imaging demonstrated enlarged cisterna magna and mild hypoplasia and atrophy of the lower vermis with a normal pons. Genetic analysis using homozygosity mapping followed by whole exome sequencing identified homozygous c.571G>T; p.G191C mutation in the EXOSC3 gene. We suggest that EXOSC3 mutations may present not only as pontocerebellar hypoplasia type 1, but also as a complicated form of hereditary spastic paraplegia without pontine hypoplasia or atrophy.
Pathogenic variants in the NONO gene have been most recently implicated in X-linked intellectual disability syndrome. This observation has been supported by studies of NONO-deficient mice showing that NONO has an important role in regulating inhibitory synaptic activity. Thus far, the phenotypic spectrum of affected patients remains limited. We applied whole exome sequencing to members of a family in which the proband was presented with a complex phenotype consisting of developmental delay, dysmorphism, and non-compaction cardiomyopathy. Exome analysis identified a novel de novo splice-site variant c.1171 +1G4T in exon 11 of NONO gene that is suspected to abolish the donor splicing site. Thus, we propose that the phenotypic spectrum of NONO-related disorder is much broader than described and that pathogenic variants in NONO cause a recognizable phenotype.
Objective
We compared neonatal immunity after vaccination against SARS-CoV-2 during pregnancy to that achieved after maternal infection.
Study design
We tested cord blood from women infected with SARS-CoV-2 during pregnancy (group 1,
n
= 29), women who were vaccinated during pregnancy (group 2,
n
= 29) and from women not infected and not vaccinated (Group 3,
n
= 21) for titers of antibodies to both SARS-CoV-2 spike and ‘N’ proteins.
Results
Seventy-nine women were included: Antibodies against SARS-CoV-2 spike protein were detected in all samples from Group 1 and 2. Antibodies to the ‘N’ protein were detected in 25/29 samples in Group 1. None of the samples from Group 3 had antibodies to either protein. Mean titers of SARS-CoV-2 antibodies were significantly higher in Group 2 than in Group 1 (
p
< 0.05).
Conclusions
Neonates born to mothers vaccinated during pregnancy have higher antibody titers and may therefore have more prolonged protection than those born to women infected during pregnancy.
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