Cognitive impairment and gray/white matter volume abnormalities in pediatric patients with Turner syndrome presenting with various karyotypes
-
Qiuling Zhao
,
Sheng Xie
Abstract
Aim: To investigate the association between cognitive impairment and gray/white matter volume abnormalities in pediatric patients with Turner syndrome (TS) presenting with various karyotypes.
Methods: In the present study, 21 pediatric patients with TS and the 45,X karyotype, 24 pediatric patients with TS and other karyotypes, and 20 normal healthy controls, underwent the Wechsler intelligence test, behavioral testing, and a 3.0T magnetic resonance (MR) scan. Whole-brain high-resolution T1-weighted images were processed with SPM8 software and analyzed using voxel-based morphometry (VBM); differences in gray/white matter volume between the TS groups and healthy controls were compared using analysis of covariance.
Results: Pediatric patients in both TS groups had significantly lower IQ scores compared to the normal controls (p<0.05). Furthermore, both TS groups scored significantly less than the normal controls in various composite tests of cognitive function, including verbal comprehension, perceptual reasoning, working memory, and processing speed (p<0.05). There were no significant differences between the two TS patient groups in terms of their scores for verbal comprehension, perceptual reasoning, working memory, and processing speed. However, they did display significant differences in the following tests: accuracy and reaction times in the executive control test, reaction times in the short-, middle-, and long-term attention test, and accuracy in the long-term attention test. Patients in the 45,X karyotype group displayed decreased gray matter volume in the bilateral cuneus, calcarine sulcus postcentral gyrus, right precuneus, superior parietal lobule, lingual gyrus, left precentral gyrus, and cingulate gyrus. However, gray matter volume was increased in the bilateral dorsal midbrain, orbital frontal gyrus, left insular lobe, superior temporal gyrus, inferior temporal gyrus, parahippocampal gyrus, cerebellum, posterior insular lobe, right caudate nucleus, putamen, and temporal pole. Patients with TS with other karyotypes exhibited decreased gray matter volume in the left precuneus, cingulate gyrus, right postcentral gyrus, supramarginal gyrus, angular gyrus, and cuneus; contrastingly, gray matter volume increased in both the epencephals, left caudate nucleus, superior temporal gyrus, right insular lobe, and temporal pole. All volume differences were statistically significant when compared with normal controls [familywise error (FWE)-corrected p<0.05]. With regard to the two TS groups, gray matter volume in the left hippocampus and left caudate nucleus was significantly decreased in the 45,X karyotype group compared to patients with TS with other karyotypes (FWE-corrected p<0.05); conversely, gray matter volume in the right supramarginal gyrus was increased in the 45,X karyotype group (FWE-corrected p<0.05).
Conclusion: Pediatric patients with TS display a lower level of intelligence compared to healthy controls, this is complicated by verbal and non-verbal cognitive impairment. The neuropathological basis of such cognitive deficiencies may be as a result of abnormalities in gray matter development.
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©2013 by Walter de Gruyter Berlin Boston
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- Masthead
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- Review article
- Application of imaging modalities for evaluating neuroblastoma
- Images in pediatric endocrinology
- Lingual thyroid
- Original articles
- A levothyroxine dose recommendation for the treatment of children and adolescents with autoimmune thyroiditis induced hypothyroidism
- Fasting glucagon-like peptide-1 in patients with overt hyperthyroidism and euthyroid congenital hypothyroidism
- Perinatal complications and higher risks of offspring thyroid dysfunction in early childhood of Graves’ disease mothers with euthyroidism
- Clinical characteristics and management of cranial diabetes insipidus in infants
- Desmopressin administration in children with central diabetes insipidus: a retrospective review
- An electronic surveillance system for monitoring the hospital presentation of nutritional vitamin D deficiency in children in Scotland
- Frequency and severity of ketoacidosis at onset of autoimmune type 1 diabetes over the past decade in children referred to a tertiary paediatric care centre: potential impact of a national programme highlighted
- Vitamin D status is associated with early markers of cardiovascular disease in prepubertal children
- Evaluation of bone mineral density in children with type 1 diabetes mellitus
- Observational study of diabetes management in type 1 diabetic school-age children during holiday versus school days
- Relationship of body mass index and GAD65 antibody status on β-cell secretion at diabetes onset in African-American children
- Serum dipeptidyl peptidase 4 activity in children with type 1 diabetes mellitus
- Concomitant autoantibodies in newly diagnosed diabetic children with transient celiac serology or proven celiac disease
- Assessment of user-friendliness of the Norditropin FlexPro for pediatric patients treated with recombinant human growth hormone: results of an open-label user survey
- Cognitive impairment and gray/white matter volume abnormalities in pediatric patients with Turner syndrome presenting with various karyotypes
- Prevalence of metabolic syndrome among urban Indian adolescents and its relation with insulin resistance (HOMA-IR)
- Prevalence of metabolic syndrome in obese Chilean children and association with gene variants of the leptin-melanocortin system
- Evaluation of serum neopterin levels and its relationship with adipokines in pediatric obesity-related nonalcoholic fatty liver disease and healthy adolescents
- Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
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- Successful subcutaneous glucagon use for persistent hypoglycaemia in congenital hyperinsulinism
- A novel atypical presentation of insulin autoimmune syndrome (Hirata’s disease) in a child
- Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia
- Speech and language delay in two children: an unusual presentation of hyperthyroidism
- Lissencephaly presenting with congenital hypothyroidism
- PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets
- Primary hyperparathyroidism as an extremely rare cause of secondary myelofibrosis in childhood
- A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands
- A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1
- Central precocious puberty in a girl with Prader-Willi syndrome
- Type 1 diabetes mellitus in a patient with homozygous sickle cell anemia
- Short communication
- No impact of obesity susceptibility loci on weight regain after a lifestyle intervention in overweight children
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