ABSTRACT
A retrospective population based survey of patients born with holoprosencephaly in South-Eastern Hungary between July 1, 1992 and June 30, 2006 was performed. All live birth cases with craniofacial and non-craniofacial abnormalities were included in the study. A total of 9 patients (5 boys and 4 girls) were found with holoprosencephaly among 185 486 live births, which correspond to a birth prevalence of 0.49 per 10,000 live births (95% confidence interval [CI]: 0.17-0.80). These figures were similar to those ones found in New York State and several European regions. In our series one newborn had trisomy 13. Eight patients did not have chromosomal abnormalities on routine testing, 4 of them had craniofacial abnormalities only and another 4 showed non-craniofacial anomalies as well. Three patients died in the neonatal period and another one in childhood. Patients surviving the neonatal period had intellectual and motor handicap, and epilepsy.
Subject(s)
Holoprosencephaly/epidemiology , Adolescent , Child , Child, Preschool , Female , Holoprosencephaly/physiopathology , Holoprosencephaly/psychology , Humans , Hungary/epidemiology , Male , Prevalence , Retrospective StudiesABSTRACT
This article describes the experiences and perceived needs of a small cohort of parents of children with holoprosencephaly (HPE). The factors that are important to the lives of children vary across families and stages of development. As children living with HPE grow and change, parents adapt their goals and expectations to reflect their child's now and future state. Relevant literature is integrated within the discussion to support recommendations for care.
Subject(s)
Holoprosencephaly/psychology , Holoprosencephaly/therapy , Parent-Child Relations , Parents , Adult , Child , Emotions/physiology , Health Planning Guidelines , Humans , Perception/physiology , Quality of LifeABSTRACT
Here, we evaluate linguistic skills and neuropsychological performance in a sample of patients with SHH mutations and a holoprosencephaly (HPE)-like phenotype, a minor form of classic HPE. Our findings suggest that patients with SHH mutations and a HPE-like phenotype have normal cognitive ratios and significant language impairment. Imaging evaluation by magnetic resonance imaging (MRI) was normal in three patients and in one there was hypoplasia of the anterior commissure and the presence of a temporal cyst, apparently not related to the clinical findings.
