RESUMEN
The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D (AD) deletion of 3 million base pairs (Mb). In this report, we evaluated IQ scores in 1,478 subjects with 22q11.2DS. The mean of full scale IQ, verbal IQ, and performance IQ scores in our cohort were 72.41 (standard deviation-SD of 13.72), 75.91(SD of 14.46), and 73.01(SD of 13.71), respectively. To investigate whether IQ scores are associated with deletion size, we examined individuals with the 3 Mb, AD (n = 1,353) and nested 1.5 Mb, AB (n = 74) deletions, since they comprised the largest subgroups. We found that full scale IQ was decreased by 6.25 points (p = .002), verbal IQ was decreased by 8.17 points (p = .0002) and performance IQ was decreased by 4.03 points (p = .028) in subjects with the AD versus AB deletion. Thus, individuals with the smaller, 1.5 Mb AB deletion have modestly higher IQ scores than those with the larger, 3 Mb AD deletion. Overall, the deletion of genes in the AB region largely explains the observed low IQ in the 22q11.2DS population. However, our results also indicate that haploinsufficiency of genes in the LCR22B-D region (BD) exert an additional negative impact on IQ. Furthermore, we did not find evidence of a confounding effect of severe congenital heart disease on IQ scores in our cohort.
Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 22 , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/psicología , Adolescente , Adulto , Niño , Femenino , Humanos , Discapacidad Intelectual/genética , Pruebas de Inteligencia , MasculinoRESUMEN
El grupo de especial interés en TDAH (GEITADH) expone en este artículo su consenso sobre algoritmos de derivación en la asistencia para el paciente afecto de TDAH. Es un diseño sencillo realizado por un amplio número de profesionales de toda España con el objetivo de poder ser adaptado a necesidades asistenciales locales. Se revisan también otros algoritmos con influencia nacional
The Spanish Especial Interest Group on ADHD (GEITDAH) presents in this article its consensus on pathways for attending ADHD patients. This is a clear and simple consensus in order to facilitate the development of local algoritms inspired on it. Some ADHD algorithms used in the Spanish Health Services are reviewed