SEARCH · PubMed Health
Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Two brothers with developmental delay and unusual cranial configurations were found to have agenesis of the corpus callosum (ACC) by CT scan. Six published families in which ACC occurred in the absence of extracranial malformations are reviewed. No single mode of inheritance can account for all of these familial cases. This family illustrates the value of CT scanning in evaluating children with developmental delay.
Developmental increase in the muscarinic receptors ([3H]quinuclidinyl benzylate binding sites) of rat neonate brain (cerebral cortex and cerebellum) was significantly inhibited by chronic nicotine treatment of the dams during pregnancy and lactation. However, development of the nicotinic receptors ([3H]cytisine binding sites) was not inhibited and rather was up-regulated in the cerebral cortex and brainstem by the nicotine treatment. Such inhibition and up-regulation were not seen in nicotine-withdrawn rats after birth. These results suggest that nicotine treatment during lactation may cause a remarkable delay in development of muscarinic neurotransmission in rat neonates.
We present our analysis of 44 patients with alternating hemiplegia of childhood. The clinical course usually consisted of three phases. The first was dominated by abnormal eye movements and dystonic episodes, the second by hemiplegic spells and psychomotor regression, and the third by persistent developmental delay and fixed neurologic deficits. The age of onset was 0-54 months (mean = 7.9 +/- 13 months). The presenting signs included abnormal ocular movements in 65%, dystonia in 60%, and hemiplegia in 32%. Patients with an early onset of the disorder and an early appearance of hemiplegic spells faired the poorest developmentally. Developmental delay was present in 91%, ataxia in 68%, choreoathetosis in 50%, and seizures in 18%. Laboratory investigations suggested mitochondrial abnormalities and cerebrovascular dysfunction in several patients. Numerous therapies were largely ineffective. Flunarizine reduced the duration, severity, and frequency of the hemiplegic attacks in 78%. Patients who received flunarizine did not differ developmentally from those who did not. Our data suggest that flunarizine does not adversely affect and may favorably influence the outcome in patients with alternating hemiplegia of childhood. Additionally, the occurrence of autosomal-dominant cases of the syndrome, although rare, suggests that, in addition to mitochondrial dysfunction, genetic factors may be important.
This paper is a review of studies examining the neurobehavioral antecedents of schizophrenia which flesh out neurodevelopmental models of schizophrenia by detailing the time course of the ontogeney of neurobehavioral impairments in schizophrenia. A follow back design was used to identify precursors of psychotic symptoms in children with a schizophrenic disorder. The vast majority of children with a schizophrenic disorder had significant developmental delays beginning early in life. For example, gross deficits in early language development were found in almost 80% of the schizophrenic children. Somewhat later in development impairments in fine motor and bi-manual coordination are noted. Some of these early developmental delays are transitory. For example, basic language skills are among the best preserved neurocognitive functions in children and adults with schizophrenia. The results of our cross-sectional neurocognitive studies suggest that children with schizophrenia suffer from limitations in the ability to engage in effortful cognitive processing or impairments in working memory. The links between these elementary neurocognitive impairments and the development of formal thought disorder as well as discourse deficits in children with a schizophrenic disorder will be discussed.
Standardized cognitive, behavioral, and neuroanatomical data are presented on 2 unrelated boys with the FRAXE (FMR2) GCC expansion mutation. In the context of normal IQ, both boys had a history of developmental delay, including significant problems with communication, attention, and overactivity. Additionally, one child was diagnosed with autistic disorder. Data from these 2 cases are compared to analogous information from previous reports about individuals with the FRAXE or FRAXA (FMR1) mutation. These comparisons support the idea that FRAXE is associated with nonspecific developmental delay and possibly high-functioning autism.
BACKGROUND: Neonatal adrenoleucodystrophy (NALD) is a rare disorder resulting from abnormal peroxisomal biogenesis. Affected patients present in infancy with developmental delay, hypotonia, and seizures. Blindness and nystagmus are prominent features. The authors suggest a characteristic leopard spot pigmentary pattern in the peripheral retina to be diagnostic. METHODS: Three patients are reported with this presentation; the characteristic retinal appearance resulted in early diagnosis for one of these. CONCLUSION: Leopard spot retinopathy in an infant with hypotonia, seizures, developmental delay, with or without dysmorphic features and hearing impairment, is a clue to the diagnosis of NALD.
Oculo-palato-cerebral syndrome is an extremely rare disorder consisting of low birth weight, microcephaly, short stature, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy. There has been one report of a consanguineous family with three affected children, suggesting autosomal recessive inheritance. We report on the second case of this disorder. Our patient, a 2-year-old boy, had growth delay, microcephaly, bilateral persistent hyperplastic primary vitreous with right microphthalmia, long ears with thickened helices, small hands and feet, highly arched palate, joint hypermobility, hypoplastic nails, frontal cerebral atrophy and thinning of the corpus callosum on brain magnetic resonance imaging, and mild developmental delay. He has much milder features than those seen in the previously reported cases.
Fifty males with the fragile X [fra(X)] syndrome, which we consider synonymous with the Martin-Bell syndrome, were identified by a chromosome analysis of patients with developmental delays or mental retardation and family studies of known fra(X) pedigrees. These males were evaluated for autism using three criteria: 1) the DSM III diagnostic criteria for Infantile Autism; 2) the Autism Behavior Checklist (ABC); and 3) the Diagnostic Checklist for Behavior Disturbed Children, Form E2. Sixteen percent of patients fulfilled all of the DSM III criteria for Infantile Autism and an additional 30% fulfilled criteria for Infantile Autism Residual State. Thirty-one percent of patients had autism using the ABC checklist but none of the patients fit the classical Kanner syndrome as described by the E2 questionnaire. Some autistic traits were seen in almost all of the 50 fra(X) patients, including eye avoidance in 90%, handflapping, handbiting or handstereotypies in 88%, and language delays with language peculiarities, usually echolalic speech, in 96%. A pervasive lack of responsiveness was seen in 18% at their present age and in 44% in earlier childhood only. Autistic symptoms are common in the fra(X) syndrome. Therefore, any patient with developmental delays and autism or autistic manifestations should have a chromosomal analysis, including fra(X) examination.
Sotos syndrome is a rare condition characterized by typical facies, early accelerated growth, large body size, developmental delay and congenital heart defects. Reports of anaesthetic management of these children are very rare. We report a case of general anaesthesia in a 2(1/2)-year-old boy with this condition, undergoing inguinal hernia repair. The child had a marked developmental delay, hypotonia and mitral regurgitation. The key points in the management of anaesthesia in Sotos syndrome are discussed.
Visual success in the treatment of monocular congenital cataracts requires early surgery, and aggressive, long-term amblyopia management and optical correction. These children will have their only normally seeing eye patched for a significant percentage of their early childhood years. We have been concerned about the possibility of an adverse psychological impact of this form of treatment. This study utilized two standardized testing instruments to evaluate the incidence of developmental delay and behavioral problems in children treated for monocular congenital cataracts. A total of 22 children were evaluated with one or both of these instruments and compared to a control group of 18 normal siblings. There was no statistically significant evidence of developmental delay or increased behavioral problems in the treatment group.
PROBLEM: Fetal Alcohol Syndrome (FAS) is preventable, under-diagnosed, and under-reported. Wisconsin rates for alcohol use and binge drinking in childbearing-age women exceed the national average. FAS prevalence in Wisconsin has not previously been systematically evaluated. METHODS: The Wisconsin Fetal Alcohol Syndrome Screening Project (WFASSP) used a multi-stage, multisource prospective population-based screening methodology to identify children born in 1998-1999 in Southeast Wisconsin who met a surveillance case definition for FAS. The 4-stage methodology used screening of electronic birth files, abstraction of neonatal medical records, and direct assessment of facial features, growth, and development at age 2 to 3 years. RESULTS: The FAS prevalence rate was 0.23 per 1000 births. Children directly evaluated had fewer demographic, pregnancy, and maternal substance use risk factors than lost-to-follow-up children. Thirty-two percent of children with weight and head circumference below the 10th percentile at birth were developmentally delayed and 47% had at least one physical growth delay. CONCLUSIONS: The WFASSP methodology identified children who had not previously been diagnosed with FAS. Using the combination of weight and head circumference below the 10th percentile at birth is a useful methodology for identifying children at substantial risk for growth and developmental delays from FAS or other unspecified etiologies.
Three patients with hyponatremia were found at an residential home of mental developmental delay. Because pimozide had been administered to all of them, it was suggested that pimozide might have induced compulsive water drinking resulting in hyponatremia. To my knowledge, there has been no previous report that pimozide may induce hyponatremia. As children with mental developmental delay and/or autism frequently develop epilepsy, hyponatremia should be included in the differential diagnosis of convulsive seizures. Particularly when antipsychotic drugs such as pimozide have been given, we should pay attention to polydipsia, polyuria and/or general malaise and prevent hyponatremia.
Modern methods of newborn intensive care have greatly improved long-term morbidity rates of very-low-birthweight (VLBW) infants. Our standardized neurological examination was applied to 3- and 6-month-old infants and expressed as a score by using Prechtl's optimality concept. Among 98 VLBW infants, 56 were at high risk because of perinatal complications with possible cerebral distress and 42 had no complications. The VLBW infants were also divided into AGA (61) and SGA (37) babies. In addition, 29 full-term infants were enrolled as controls. A statistical analysis of the optimality scores revealed that all VLBW infants had significantly lower mean scores at the corrected age of 3 months than the full-term controls. Intrauterine growth retardation and perinatal cerebral distress clearly depress the optimality scores. At 6 months only infants with high perinatal risk had considerably lower scores than the age controls. Two-thirds of all VLBW infants were found to have a developmental delay and/or a neurological deficit at the corrected age of 3 months. At age 6 months, however, a marked catch-up and/or self-repair had occurred, as was documented by about 70% of normal optimality scores. Head circumference measurements over the first year of life can be an important assisting factor in developmental assessments. If a microcephalic infant does not show higher than normal head growth velocity a severe developmental delay or neurological deficit must be expected. At 12 months the Bayley scores of psychomotor development have served to complement the preceding neurological and head growth findings.
OBJECTIVE: To meet the need for instrument assessing the cognitive abilities of infants and young children as well as discriminating between global developmental delay and particular deficits in either language or problem-solving skills, we intended to introduce Cognitive Adaptive Test/Clinical Linguistic and Auditory Milestone Scale (CAT/CLAMS) into China. METHODS: CAT/CLAMS were administered to 1604 normative children aged 4-36 months (in 16 age groups, about 100 children per age group) in Shanghai during the period from December 2003 to June 2004. In the meantime, Gesell Developmental Diagnosis was applied for 100 of these children, respectively aged 4, 6, 12, 18 and 30 months (20 children per age group). Interclass correlation coefficients (ICC) were adopted to analyze data in terms of inter-rater reliability and re-test reliability of the scales of CAT/CLAMS. Cronbach alpha coefficients were calculated to assess the inter consistency of the scales. Pearson correlation coefficients(r) were adopted to analyze the concurrent validity of the scales. The normative percentile graphs of CAT/CLAMS in the children from 4 to 36 Months of age in Shanghai, China were adopted. RESULTS: Administrations of the CAT/CLAMS for each subject usually took 10-20 minutes. Individual scores (CLAMS, CAT, and CAT/CLAMS) increased with ages (Pearson correlation coefficients were 0.96, 0.98 and 0.98, respectively, P < 0.01 for all). ICCs (intraclass correlation coefficient) in terms of individual scores for the inter-rater reliability test and the re-test reliability test were respectively > or = 0.96 (P < 0.01) and > or = 0.95 (P < 0.01), all the Cronbach alpha coefficients were > or = 0.98; in 100 children of the 5 age groups, there was significantly positive correlation between CAT/CLAMS and Gesell Developmental Diagnosis in terms of language skill DQ and adaptive skill DQ, and Full Scale DQ (r = 0.517, 0.703, 0.613, respectively, P < 0.01 for all). Moreover, this significant positive correlation was observed in each of the 5 age groups (r = 0.455-0.827, P < 0.05). CONCLUSION: CAT/CLAMS is suitable for discriminating between global developmental delay and particular deficits in either language or problem-solving skills. It is a quick, reliable, and valid instrument, with refined and quantified results. It is a good tool for developmental surveillance and screening of infants and young children.
To identify the risk factors associated with subgaleal haemorrhage and to assess the long-term neurological and developmental morbidity in survivors, data were prospectively collected over 5 years on 69 newborns with subgaleal haemorrhage from a cohort of 23,353 live and term deliveries, giving an incidence of subgaleal haemorrhage of 3.0 per 1000 live and term births. Multivariate analysis of risk factors associated with subgaleal haemorrhage on univariate analysis showed that prolonged second stage of labour (OR = 9.02; 95% CI 6.15-17.51), fetal distress (OR = 5.05; 95% CI 2.67-11.12), vacuum delivery (OR = 7.17; 95% CI 5.43-10.25), forceps delivery (OR = 2.66; 95% CI 1.78-5.18), and birthweight (OR = 2.20; 95% CI 1.54-6.56) significantly influenced the occurrence of subgaleal haemorrhage. When the effects of prolonged second stage of labour, fetal distress, birthweight and gestational age were controlled for, the odds of harbouring subgaleal bleed following vacuum delivery were, respectively, OR = 7.80 (95% CI 5.45-11.61), OR = 6.15 (95% CI 3.71-10.84), OR = 5.01 (95% CI 2.78-9.63) and OR = 7.65 (95% CI 4.73-16.65). Among the 69 newborns with subgaleal haemorrhage, ten (14%) died and twelve (20%) of the 59 survivors were lost to follow-up. Of the remaining 47 survivors, three (6%) died during follow-up of diseases unrelated to the bleed, leaving 44 survivors, none of whom had either neurological deficit or developmental delay. The study concludes that subgaleal haemorrhage in neonates is the result of birth trauma associated with difficult instrumental delivery. Newborns with subgaleal haemorrhage who survive the acute episode of the bleed show no evidence of subsequent long-term neurological deficit or developmental delay.
Interstitial deletions in the terminal region of chromosome 6 are rare. We describe three new cases with subtle interstitial deletions in the q24-q26 region of the long arm of chromosome 6. The karyotypes were analyzed at a 550 band level. Patient1 is a 9-month-old boy with an interstitial deletion, del(6)(q24.2q25.1), developmental delay, low birth weight, hypotonia, heart murmur, respiratory distress, craniofacial and genital anomalies. This is the first report of a case with deletion del(6)(q24.2q25.1). Patient 2 is a 17-year-old young man with an interstitial deletion del(6)(q25.1q25.3), developmental delay, short stature, mental retardation, autism, head, face, chest, hand and feet anomalies and a history of seizures. For the first time autism was described as a manifestation in 6q deletions. Patient 3 is baby boy with a de novo interstitial deletion, del(6)(q25.1q26), anomalies of the brain, genital organs, limbs and feet. This is the first report of a case with deletion, del(6)(q25.1q26). In all three patients, fluorescence in situ hybridization (FISH) using chromosome 6 painting probe ruled out an insertion. The ESR (6q25.1) and TBP (6q27) probes were used to confirm the breakpoints. Since TBP signal is present in all cases, it confirmed an interstitial deletion proximal to this probe. Patient 1 has a deletion of the ESR locus; Patient 2 and 3 have signals for the ESR locus on both chromosomes 6. Therefore the deletion in Patients 2 and 3 are between ESR and TBP loci distal to that of Patient 1. FISH validated the deletion breakpoints assessed by conventional cytogenetics.
Otolaryngologic complications of gastroesophageal reflux (GER) are well described in adults, but this relationship has not been as carefully studied in children. We reviewed 26 dual pH-probe studies performed on 22 children with upper airway symptoms. The proximal probe was placed in the nasopharynx or hypopharynx. The distal probe was placed in the mid-proximal oesophagus. The proximal recording was considered normal if no episodes of pH < 4 were recorded. Indications for the studies were upper airway obstruction (UAO) and congenital choanal atresia (CCA). The age range was from 2 weeks to 47 months. The distal pH probe study was normal in 13 of 22 patients overall. Seventeen UAO patients had abnormal proximal pH probe studies. After treatment, 16 of 17 had improved airways. Twelve with UAO (67%) were premature and/or had developmental delay. Three CCA patients had abnormal proximal pH-probe studies and all improved after treatment. Four follow-up pH studies were normal or improved. GER-induced UAO is more frequent in infants or children with a history of prematurity or developmental delay. Proximal pH-metry is a useful technique to document the relationship between upper airway symptoms and GER. Patients with GER-induced UAO should undergo endoscopy to rule out simultaneous airway lesions.
Few objective measures of the efficacy of intervention programs in the treatment of child abuse exist. One such measure may be improvement in the developmental delays often seen in abused children. Using the Learning Assessment Profile, we tested 53 abused children, ages 2.5-5 years, just before and after involvement in our Family Development Center Program (FDC). The FDC emphasizes therapy-group-interaction for parents, where alternative ways of expressing anger are explored. Children attend daily preschool classes, and take occasional outside field trips. Of the 53 children tested 42 (79%) showed greater than expected developmental skills gains. Six children demonstrated no improvement in developmental skills, four of whom had severe developmental delays in one or two areas. Fine motor and language skills were significantly delayed for the group as a whole; these areas showed the greatest improvement after FDC. There did not appear to be an overall association between increased improvement in developmental skills and length of time in the FDC program, although certain subgroups of children appeared to improve with time while others appeared to lose ground. A five-year follow-up study of these children is presently underway. We conclude that a program which involves both parent and child, and focuses on their interaction, appears to be effective in dealing with abusive families; monitoring developmental levels in the abused children is one means of assessing their progress in such a program. Further controlled prospective trials are needed in this area.