Links between abnormal brain structure and cognition in holoprosencephaly
Child; Female; Humans; Male; Age Factors; Severity of Illness Index; Cognition; Sex Factors; Predictive Value of Tests; adolescent; Preschool; infant; Q3 Literature Search; Neuropsychological Tests; Brain/abnormalities; Cognition Disorders/pathology; Corpus Striatum/abnormalities; Epilepsy/pathology; Holoprosencephaly/pathology; Hypothalamus/abnormalities; Motor Skills Disorders/pathology; Thalamic Nuclei/abnormalities
Converging information on medical issues, motor ability, and cognitive outcomes is essential when addressing long-term clinical management in children with holoprosencephaly. This study considered whether adding more informative structural indices to classic holoprosencephaly categories would increase prediction of cognitive outcomes. Forty-two children with holoprosencephaly were examined to determine the association of deep gray nuclei abnormalities with cognitive abilities and the effect of motor skill deficits on cognitive performance. Additionally, a cognitive profile was described using the Carter Neurocognitive Assessment, an experimental diagnostic instrument designed specifically for young children with severe neurodevelopmental dysfunction. Findings indicated that nonseparation of the deep gray nuclei was significantly associated with the cognitive construct of vocal communication, but not with the cognitive constructs of social awareness, visual attention, or auditory comprehension. Importantly, motor skill deficits did not significantly affect performance on the Carter Neurocognitive Assessment. This study is the first investigation to provide a descriptive overview of specific cognitive skills in this group of children. The results also strongly suggest that this feature of the brain's structure does not predict all aspects of neurodevelopmental function. These findings contribute a critical component to the growing body of knowledge regarding the medical and clinical outcomes of children with holoprosencephaly.
2006
Roesler CP; Paterson SJ; Flax J; Hahn JS; Kovar C; Stashinko EE; Jing H; Benasich AA
Pediatric Neurology
2006
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/j.pediatrneurol.2006.07.004" target="_blank" rel="noreferrer">10.1016/j.pediatrneurol.2006.07.004</a>
Neuroanatomy of holoprosencephaly as predictor of function: beyond the face predicting the brain
Child; Female; Humans; Male; Adult; Prospective Studies; Magnetic Resonance Imaging; Linear Models; Chi-Square Distribution; Forecasting; adolescent; Preschool; infant; Q3 Literature Search; Nonparametric; Statistics; Tomography; Brain/pathology; X-Ray Computed; Face/pathology; Holoprosencephaly/pathology/physiopathology; Seizures/pathology/physiopathology
BACKGROUND: Despite advances in neuroimaging and molecular genetics of holoprosencephaly (HPE), the clinical spectrum of HPE has remained inadequately described. OBJECTIVE: To better characterize the clinical features of HPE and identify specific neuroanatomic abnormalities that may be useful predictors of neurodevelopmental function. METHODS: The authors evaluated 68 children with HPE in a multicenter, prospective study. Neuroimaging studies were assessed for the grade of HPE (lobar, semilobar, and alobar), the degree of nonseparation of the deep gray nuclei, and presence of dorsal cyst or cortical malformation. RESULTS: In general, the severity of clinical problems and neurologic dysfunctions correlated with the degree of hemispheric nonseparation (grade of HPE). Nearly three-quarters of the patients had endocrinopathies, with all having at least diabetes insipidus. The severity of endocrine abnormalities correlated with the degree of hypothalamic nonseparation (p = 0.029). Seizures occurred in approximately half of the children with HPE. The presence of cortical malformations was associated with difficult-to-control seizures. The presence and degree of dystonia correlated with the degree of nonseparation of the caudate and lentiform nuclei and the grade of HPE (p < 0.05). Hypotonia correlated with the grade of HPE (p < 0.05). Mobility, upper extremity function, and language correlated with the degree of nonseparation of the caudate, lentiform and thalamic nuclei, and grade of HPE (p < 0.01). CONCLUSIONS: Patients with HPE manifest a wide spectrum of clinical problems and neurologic dysfunction. The nature and severity of many of these problems can be predicted by specific neuroanatomic abnormalities found in HPE.
2002
Plawner LL; Delgado MR; Miller VS; Levey EB; Kinsman SL; Barkovich AJ; Simon EM; Clegg NJ; Sweet VT; Stashinko EE; Hahn JS
Neurology
2002
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1212/wnl.59.7.1058" target="_blank" rel="noreferrer">10.1212/wnl.59.7.1058</a>