Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A pilot study is presented, in which traditional neurodevelopmental parameters were retrospectively used in an attempt to compare the early development of 10 young girls with Rett syndrome (RS) to that of considered normality in child health screening. The early developmental profile at key ages was defined by applying the Denver Developmental Screening Test frames for the range of normal development, to the achievements recorded for each child during routine developmental assessment in Swedish child health care. Key ages chosen were 6, 9-10, 15, 18 and 24 months. At the 6 month level no predictive deviations could have been revealed. At 9-10 months suspicions of abnormal development could have been arisen from a delayed, dissociated motor development combined with immaturity of equilibrium functions. Developmental deviations and neurological signs indicative of RS had been present in 5 of the girls at 15 months, in 8 at 18 months and in all 10 at 24 months. Possible predictive signs were loss of acquired hand skill and learned single words, diminished communication and contact ability, appearance of truncal instability and dysequilibrium signs. The insidious appearance of motor developmental deviations during infancy, dwelling inside the concept of normality, was confirmed. Loss of acquired manipulative hand skill, often mixed with non-specific circulating hand-mouth movements, still constitutes the single most informative early warning signal for the syndrome.
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PMID:Rett syndrome: a retrospective pilot study on potential early predictive symptomatology. 343 23

Autonomic activity and respiration were studied in Rett syndrome (RS) and age matched controls. Breathing movements were monitored using a pletysmograph around the chest. Sympathetic activity was monitored by measuring blood pressure (BP) using the Finapres. Cardiac parasympathetic activity was monitored by measuring the cardiac response to baroreflex using the NeuroScope which outputs measure of cardiac vagal tone (CVT) in units of a linear vagal scale (LVS). Resting CVT (means +/- SEM) was 10.5 +/- 0.9 units in the LVS and BP was 94.6 +/- 6.4 mmHg in controls. The BP was 78 +/- 4.33 mmHg and CVT was 3.6 +/- 0.7 units in the LVS in girls with RS, 65% lower than in their age matched controls (p < 0.001), but equal to previously reported level in neonates. Each girl with RS had at least 6 types of breathing dysrhythmias, a sign of instability of the respiratory oscillator. The sympathetic system controlled the HR and BP smoothly during breath holding in control girls, but there were oscillations and rebounds in RS. The HR and BP were under parasympathetic influence during hyperventilation in normal girls but not in RS. The CVT was invariably withdrawn at the height of sympathetic activity during both hyperventilation and breath holding in RS, leading to sympathovagal imbalance with the risk of cardiac arrhythmias and possibly sudden death. Neonatal level of CVT, poor autonomic integration and multiple breathing dysrhythmias shows medullary immaturity in RS. It is the first demonstration of immaturity of the brain which could be used for screening in early childhood and potentially useful for diagnosis and management of RS.
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PMID:Functional evidence of brain stem immaturity in Rett syndrome. 945 20

The mortality rate in Rett syndrome is 1.2% per annum, 48% of deaths occurring in debilitated people, 13% from natural causes, 13% with prior severe seizures and 26% sudden and unexpected. Respiratory dysrhythmias were usually present. Neuropathology confirmed reductions in cortical dendrites and in one case immaturity of cardiac conducting tissues.
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PMID:Rett syndrome: analysis of deaths in the British survey. 945 25

Rett syndrome is a neurodevelopmental disorder characterized by autistic behavior as well as cognitive and motor skill loss that occurs early in life and almost exclusively affects females. We studied the neuroradiological findings from MRI, SPECT, and proton magnetic resonance spectroscopy (1H-MRS) in 4 cases of Rett syndrome. Three of the 4 cases were diagnosed as Rett syndrome by gene analysis of MECP2. MRS demonstrated a decrease of N-acetylaspartate (NAA) in all 4 cases of Rett syndrome. In addition, MRI revealed frontal cortical atrophy and SPECT demonstrated low blood flow in the frontal lobe. We speculated that this decrease in NAA reflected neuronal loss, immaturity or hypofunction in these regions. The results of our study were in agreement with the previous studies on Rett syndrome by neuropathological methods.
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PMID:[Neuroradiological studies in Rett syndrome]. 1863 17

Rett syndrome (RS) is a unique X-linked dominant neurodevelopmental disorder affecting 1 in 10,000 females. Mutations in the MECP2 gene located on Xq28 have been identified. Many of the characteristic features evolve due to immaturity of the brain in RS. Cardiorespiratory function should be investigated early to characterise the clinical phenotype of the person with RS because each of the three cardiorespiratory phenotypes; apneustic, feeble and forceful breathers have unique and different management strategies. We report a case of a feeble breather showing a correlation between cortical function and tissue pO(2) and pCO(2). We conclude that subtle changes in the levels of blood gases significantly affect cortical function in RS.
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PMID:Treating hypoxia in a feeble breather with Rett syndrome. 2261 59

Rett syndrome (RTT) is a pervasive neurodevelopmental disorder mainly linked to mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Respiratory dysfunction, historically credited to brainstem immaturity, represents a major challenge in RTT. Our aim was to characterize the relationships between pulmonary gas exchange abnormality (GEA), upper airway obstruction, and redox status in patients with typical RTT (n = 228) and to examine lung histology in a Mecp2-null mouse model of the disease. GEA was detectable in ~80% (184/228) of patients versus ~18% of healthy controls, with "high" (39.8%) and "low" (34.8%) patterns dominating over "mixed" (19.6%) and "simple mismatch" (5.9%) types. Increased plasma levels of non-protein-bound iron (NPBI), F2-isoprostanes (F2-IsoPs), intraerythrocyte NPBI (IE-NPBI), and reduced and oxidized glutathione (i.e., GSH and GSSG) were evidenced in RTT with consequently decreased GSH/GSSG ratios. Apnea frequency/severity was positively correlated with IE-NPBI, F2-IsoPs, and GSSG and negatively with GSH/GSSG ratio. A diffuse inflammatory infiltrate of the terminal bronchioles and alveoli was evidenced in half of the examined Mecp2-mutant mice, well fitting with the radiological findings previously observed in RTT patients. Our findings indicate that GEA is a key feature of RTT and that terminal bronchioles are a likely major target of the disease.
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PMID:Inflammatory lung disease in Rett syndrome. 2475 86