The Benefits and Bias in Neurodevelopmental Evaluation for Children with Congenital Heart Disease.

Neurodevelopmental (ND) impairment is common in children with congenital heart disease (CHD). While routine ND surveillance and evaluation of high-risk patients has become the standard-of-care, capture rate, barriers to referral, and potential patient benefits remain incompletely understood. Electronic data warehouse records from a single center were reviewed to identify all eligible and evaluated patients between July 2015 and December 2017 based on current guidelines for ND screening in CHD. Diagnoses, referring provider, and payor were considered. Potential benefit of the evaluation was defined as receipt of new diagnosis, referral for additional evaluation, or referral for a new service. Contingencies were assessed with Fisher's exact test. In this retrospective, cohort study, of 3434 children identified as eligible for ND evaluation, 135 were evaluated (4%). Appropriate evaluation was affected by diagnostic bias against coarctation of the aorta (CoArc) and favoring hypoplastic left heart syndrome (HLHS) (1.8 vs. 11.9%, p<0.01). Referrals were disproportionally made by a select group of cardiologists, and the rate of ND appointment non-compliance was higher in self-pay compared to insured patients (78% vs 27%, p<0.01). Potential benefit rate was 70-80% amongst individuals with the three most common diagnoses requiring neonatal surgery (CoArc, transposition of the great arteries, and HLHS). Appropriate ND evaluation in CHD is impacted by diagnosis, provider, and insurance status. Potential benefit of ND evaluation is high regardless of diagnosis. Strategies to improve access to ND evaluations and provider understanding of the at-risk population will likely improve longitudinal ND surveillance and clinical benefit.

Cerebellar ataxia, peripheral neuropathy, "gluten sensitivity" and anti-neuronal autoantibodies.

"Gluten sensitive" neurological syndromes (ataxia, peripheral neuropathy, and other conditions) have been hypothesised in patients with various idiopathic neuropathologies, detectable anti-gliadin antibodies and HLA-DQ2 or DQ7. Further investigation of these cases has suggested a high incidence of anti-neuronal antibodies (anti-Purkinje, anti- neuronal nuclear, anti-GAD). This study investigates this contentious area. Over a two-year period, from a local UK population base of two million, seeing over 5000 general neurology referrals per year, we collected 20 cases with idiopathic ataxia, and 32 with idiopathic peripheral neuropathy, and referred them all for blinded antibody testing. 30 adult healthy blood donors, and 7 cases of hereditary ataxia were used as control subjects. Anti-gliadin antibodies (IgG and or IgA) were found in 40% of cases with idiopathic ataxia, 34% with idiopathic peripheral neuropathy, 17% healthy blood donors and 43% with hereditary ataxia. None was positive for antiPurkinje cell or anti-neuronal nuclear antibodies. Only two patients with idiopathic ataxia were positive for antiGAD antibodies (one also being anti-gliadin positive). We were unable to confirm the findings of other groups. First, cases of so-called "gluten sensitive" neurological syndromes were extremely rare in our centre. Second, our idiopathic cases, whether they be gliadin antibody seropositive or not (i.e. "gluten sensitive" or not) were rarely neuronal autoantibody positive.