Using Telemedicine to Overcome Barriers to Neurodevelopmental Care from the Neonatal Intensive Care Unit to School Entry.

Dedicated Neonatal Intensive Care Unit (NICU) follow-up programs are recommended for ongoing surveillance for infants at high-risk for future neurodevelopmental impairment (NDI). Systemic, socioeconomic, and psychosocial barriers remain for referrals and the continued neurodevelopmental follow-up of high-risk infants. Telemedicine can help overcome these barriers. Telemedicine allows standardization of evaluations, increased referral rates, and reduced time to follow-up as well as increased therapy engagement. Telemedicine can expand neurodevelopmental surveillance and support all NICU graduates, facilitating the early identification of NDI. However, with the recent expansion of telemedicine during the COVID-19 pandemic, new barriers related to access and technological support have arisen.

A Neurologist's Guide to Neonatal Neurodevelopmental Assessments and Preterm Brain Injury.

Despite advances in medical care and improved survival of extremely preterm infants, rates of neurodevelopmental impairment remain high. Outcomes are significantly improved with early intervention, but infants must be appropriately identified to facilitate services. Neuroimaging provides important information regarding neurodevelopmental outcomes but prognosticating and communicating risk remains challenging. Standardized neonatal neurodevelopmental assessments provide supplemental information to aid in the identification of high-risk infants and counseling for their families.

Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders.

Neurogenetic and metabolic diseases often present in the neonatal period, masquerading as other disorders, most commonly as neonatal encephalopathy and seizures. Advancements in our understanding of inborn errors of metabolism are leading to an increasing number of therapeutic options. Many of these treatments can improve long-term neurodevelopment and seizure control. However, the treatments are frequently condition-specific. A high index of suspicion is required for prompt identification and treatment. When suspected, simultaneous metabolic and molecular testing are recommended along with concurrent treatment.

The Autism Detection in Early Childhood Tool: Level 2 autism spectrum disorder screening in a NICU Follow-up program.

OBJECTIVE: Children born preterm are at increased risk for autism spectrum disorder (ASD). However, early diagnosis of ASD is challenging because conventional screening Level 1 tools are less reliable in this population. We sought to determine whether the Autism Detection in Early Childhood (ADEC) and Child Behavior Checklist (CBCL) could accurately identify children at risk for ASD in a NICU Follow-up setting and thus facilitate referral for formal ASD evaluation. METHOD: Children aged 18-36 months were recruited from a NICU Follow-up program. All children received presumptive diagnoses based on DSM-5 criteria and were screened for ASD risk with the ADEC and CBCL. Children scoring in the "at risk" range on either tool were referred for a full diagnostic ASD evaluation. RESULTS: Sixty-nine patients (median birth weight 1140 g; median gestational age 28 weeks) were included with 18 designated "at risk" for ASD. Nine (13 %) scored "at risk" on the ADEC and 12 (17 %) on the CBCL. Thirteen children underwent diagnostic ASD evaluation with 9 receiving a formal diagnosis of ASD. The ADEC demonstrated the best performance (sensitivity 89 %, specificity 98 %). The CBCL was less sensitive (sensitivity 50 %, specificity 90 %). Requiring elevated scores on both the CBCL and ADEC was specific but not sensitive (sensitivity 33 %, specificity 100 %). CONCLUSION: The ADEC performed well in identifying children at risk for ASD within this high-risk NICU cohort, adding benefit as an autism-specific screening tool over the CBCL alone.

Predictors of Neurodevelopmental Impairment After Neonatal Bacterial Meningitis.

BACKGROUND: Neonatal bacterial meningitis has high rates of morbidity and mortality. Early clinical signs and neuroimaging suggest adverse outcomes, but little is known about their combined predictive properties. We evaluated the combination of findings most associated with death and neurodevelopmental impairment. METHODS: Single-center retrospective cohort study of term and late preterm neonates with bacterial meningitis. Predictors of death and neurodevelopmental impairment were identified on univariate analysis and incorporated into Lasso models to identify variables best predicting adverse outcomes. RESULTS: Of 103 neonates, 6 died acutely; 30% of survivors had neurodevelopmental impairment. Clinical variables (seizures, pressor support) predicted death and neurodevelopmental impairment better than the neuroimaging or combined findings (area under the curve 0.88 vs 0.79 and 0.83, respectively). Among survivors, neuroimaging findings (cerebrovascular lesions, ventriculomegaly) predicted neurodevelopmental impairment better than clinical or combined findings (area under the curve 0.82 vs 0.80 and 0.77, respectively). CONCLUSIONS: Seizures are important predictors of adverse outcomes in neonatal bacterial meningitis. Among survivors, neuroimaging findings help predict neurodevelopmental impairment.

Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia.

BACKGROUND: Schimke immuno-osseous dysplasia is a rare autosomal recessive disease resulting from biallelic SMARCAL1 mutations. It presents in early childhood and is characterized by short stature, nephropathy, and immunodeficiency. Approximately 50% of those affected have neurological complications including migraines, transient ischemic attacks, and strokes. METHODS: We present a six-year-old boy with Schimke immuno-osseous dysplasia without evidence of atherosclerosis with recurrent episodes of severe headache, fluctuating hemiparesis, and aphasia. RESULTS: Magnetic resonance imaging and angiography were normal during the initial episode; multiple areas of reversible restricted diffusion with decreased perfusion and arterial stenosis were seen with subsequent attacks. CONCLUSIONS: This constellation of symptoms and imaging findings is suggestive of reversible cerebral vasoconstriction syndrome, which we propose as a mechanism for the transient ischemic attacks and infarcts seen in some patients with Schimke immuno-osseous dysplasia, as opposed to accelerated atherosclerosis alone. This new insight may provide a basis for novel preventative therapy in this rare disorder.