Madeleine R Falby, Donald C Brien, Lysa Boissé Lomax, Garima Shukla, Gavin P Winston
Canadian Practice and Recommendations on Functional MRI to Lateralize Language in Epilepsy
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
classical homocystinuria due cystathionine synthase cbs deficiency omim 236200 recessively inherited condition caused mutations cbs gene founder mutation pr336c accounts almost cbs deficiency qatar affecting approximately 1 1800 births making prevalent monogenic disease among qatari population untreated patients severe intellectual disability id devastating multisystem complications premature death current treatment based pharmacology therapy lifelong methioninerestricted diet difficult maintain particularly late diagnosed individuals data neurodevelopmental psychological impact disease outcomes among qatari patients generally lacking studied examine cognitive educational psychological outcomes classical homocystinuria qatari patients thirtytwo cases classical homocystinuria 25 sibling controls recruited evaluate neurodevelopmental cognitive outcomes reviewed subjects medical record collected pertinent clinical educational data parents stanfordbinet intelligence test arabic translation 4th ed used cognitive iq testing mean age subjects 112 years range 0629 56 males majority cases 93 carried mutation pr336c parental consanguinity 84 differences two groups fine motor expressive language behavioural visual skills however cases much lower total iq particularly domains short memory quantitative reasoning visualspatial domains significant number adolescents adult cases medical comorbidities well behavioural emotional problems individuals classical homocystinuria many developmental cognitive difficulties significant number cases learning disability lower iqs cf sibling controls adolescents adults affected diagnosed newborn screening better developmental cognitive outcomes compared late diagnosed cases psychological psychiatric referrals part standard care cases