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PubMed2004

Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.

LIG4 syndrome patients have hypomorphic mutations in DNA ligase IV. Although four of the five identified patients display immunodeficiency and developmental delay, one patient was developmentally normal. The developmentally normal patient had the same homozygous mutation (R278H) in DNA ligase IV as one of the more severely affected patients, who additionally had two linked polymorphisms. Here, we examine the impact of the mutations and polymorphisms identified in the LIG4 syndrome patients. Examination of recombinant mutant proteins shows that the severity of the clinical features correlates with the level of residual ligase activity. The polymorphisms decrease the activity of DNA ligase IV by approximately 2-fold. When combined with the otherwise mild R278H mutation, the activity is reduced to a level similar to other LIG4 patients who display immunodeficiency and developmental delay. This demonstrates how coupling of a mutation and polymorphism can have a marked impact on protein function and provides an example where a polymorphism may have influenced clinical outcome. Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation.

Animals↗

PubMed1995

Validity of the Peabody Developmental Gross Motor Scale as an evaluative measure of infants receiving physical therapy.

BACKGROUND AND PURPOSE: The purpose of this study was to examine the validity of the Peabody Developmental Gross Motor Scale (PDMS-GM) as an evaluative measure of infants receiving physical therapy. SUBJECTS AND METHODS: Infants who attended an early intervention program (N = 124) were grouped by diagnosis: cerebral palsy, Down syndrome, hydrocephalus, preterm with developmental delay, full term with developmental delay, and other. The PDMS-GM was administered to each infant three times over a 6-month period by a therapist who did not provide treatment. RESULTS: Mean scaled scores and age-equivalent scores increased for each group. Individual change was examined using the reliable change index. The results indicated that the change in total raw score for 62% of the infants was greater than what could be attributed to measurement error. When minimal clinically important change was defined as 10 scaled score points, the index of responsiveness was equal to 0.5. This finding indicates that a sample size of 68 subjects per group would be needed when the PDMS-GM is used as an outcome measure in research. CONCLUSION AND DISCUSSION: The mean change scores for each group support the use of the PDMS-GM as an evaluative measure. For many infants, particularly infants with cerebral palsy, the PDMS-GM was not responsive to change over a 6-month period. The index of responsiveness suggests that the PDMS-GM should be used only as an outcome measure in large clinical trials. The PDMS-GM is not recommended for evaluating the direct effects of physical therapy but is recommended for providing a global measure of change in motor development as part of a multidimensional assessment.

Cerebral Palsy↗

PubMed2006

High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome.

Pallister-Killian syndrome (PKS) is a rare syndrome of multiple congenital anomalies attributable to the presence of a mosaic supernumerary isochromosome 12p. The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the facial features), and developmental delay. The developmental phenotype of PKS is quite variable, but most are considered to fall into the profound range of developmental retardation. We report on an individual with classical features of PKS with development significantly better than that reported in the literature. Developmental and behavioral testing in this individual alters the range of developmental expectation in PKS, and highlights the need for consideration of chromosomal analysis in individuals with normal or near-normal intelligence if other physical phenotypic features of PKS are present.

Abnormalities, Multiple↗

PubMed1978

The status at two years of low-birth-weight infants born in 1974 with birth weights of less than 1,001 gm.

A two-year follow-up study of 43 infants of birth weight less than or equal to 1,000 gm born during 1974 revealed the following: average height at two years was between the tenth and twenty-fifth percentiles; average weight between the third and tenth percentiles. Fifteen (35%) developed lower respiratory tract infections during the first two years. Seven (16%) had retrolental fibroplasia. Major neurologic defects occurred in four (9%); severe developmental delay (mean developmental quotient less than 80) was found in nine others (21%). Defects of the central nervous system were closely associated with a neonatal history of intracranial hemorrhage or seizures or both.

Body Height↗

PubMed1997

The developmental outcome of children with antenatal mild isolated ventriculomegaly.

OBJECTIVE: To evaluate standardized developmental test performance of infants and children who as fetuses had mild isolated cerebral ventriculomegaly diagnosed by ultrasound. METHODS: Ultrasound records from 1990 to 1996 were searched for cases of mild isolated ventriculomegaly, and standardized developmental testing of the children was offered to their parents. Each consented child was matched to a normal antepartum subject with respect to sex, race, indication for ultrasound, and gestational age (+/- 2 weeks) at the time of ultrasound. Tests of cognitive, motor, and adaptive behavior were then administered by examiners blinded to the subjects' case or comparison status. RESULTS: Twenty-two cases and an equal number of matched comparison subjects completed the testing. The ventriculomegaly and comparison groups were similar with respect to parental age, maternal education, and household income. The ventriculomegaly subjects scored significantly lower than the comparison group on both the Bayley Scales of Infant Development: mental development index (88.95 versus 99.68, P = .017) and psychomotor development index (95.99 versus 103.95, P = .039). Eight of the 22 ventriculomegaly children were classified as developmentally delayed on the mental developmental index compared with one of 22 children in the comparison group (P = .021). Adaptive behavior skills, as measured by the Vineland Behavior Scales (99.64 versus 102.68), were not significantly different between the groups (P = .571). CONCLUSION: Mild isolated ventriculomegaly detected on antepartum sonographic examination is associated with a significant risk for developmental delay. Insofar as these children were judged to be completely normal at birth, our findings represent an important application of antepartum sonography for identifying infants who could be targeted for early childhood intervention.

Cerebral Ventricles↗

PubMed2003

X-linked creatine transporter defect: an overview.

In 2001 we identified a new inborn error of metabolism caused by a defect in the X-linked creatine transporter SLC6A8 gene mapped at Xq28 (SLC6A8 deficiency, McKusick 300352). An X-linked creatine transporter defect was presumed because of (1) the absence of creatine in the brain as indicated by proton magnetic resonance spectroscopy (MRS); (2) the elevated creatine levels in urine and normal guanidinoacetate levels in plasma, ruling out a creatine biosynthesis defect; (3) the absence of an improvement on creatine supplementation; and (4) the fact that the pedigree suggested an X-linked disease. Our hypothesis was proved by the presence of a hemizygous nonsense mutation in the male index patient and by the impaired creatine uptake by cultured fibroblasts. Currently, at least 7 unrelated families (13 male patients and 13 carriers) with a SLC6A8 deficiency have been identified. Four families come from one metropolitan area. This suggests that SLC6A8 deficiency may have a relatively high incidence. The hallmarks of the disorder are X-linked mental retardation, expressive speech and language delay, epilepsy, developmental delay and autistic behaviour. In approximately 50% of the female carriers, learning disabilities of varying degrees have been noted.

Biological Transport↗

PubMedDate not supplied

Family-focused substance abuse treatment: a program evaluation.

Until recently, few programs were available for children whose mothers are in recovery. A refinement of the gender-specific model of substance abuse treatment, the "family-focused" approach, has placed increased emphasis on the needs of children and other family members. However, because these programs are relatively new, little is known about the effectiveness of this type of treatment for either the mother or her children. This article presents findings from a three-year evaluation of a family-focused residential treatment program for women and their children. Longitudinal assessment of the mothers indicated that their psychosocial status and parenting attitudes improved over time. Additionally, the mothers remained in treatment longer. At intake, as a group, the children who were birth to three years of age did not exhibit developmental delay. However, developmental concerns were identified for some children in the areas of motor and/or language development. The results reported here provide beginning evidence that family-focused treatment improves retention, psychosocial functioning, and parenting attitudes of pregnant and parenting women. It also provides a mechanism for early identification and intervention for children.

Child Development↗

PubMed1994

Expression and functional involvement of N-cadherin in embryonic limb chondrogenesis.

Cell adhesion molecules have been shown to be important mediators of morphogenesis and pattern formation. In this study, we have shown that N-cadherin is expressed in a specific spatiotemporal manner in the developing limb bud during chondrogenesis in vivo and in cultured limb mesenchyme in vitro. The time period of maximal expression of N-cadherin corresponds to the period of active cellular condensation, an event believed to be a necessary prerequisite for chondrogenic differentiation. To directly assess the functional involvement of N-cadherin in cellular condensation, we have examined the effects of perturbing N-cadherin activity on both cell aggregation and chondrogenesis using NCD-2, a rat monoclonal antibody directed against the binding region of N-cadherin. Non-immune rat IgG was used as a control. Our results show that functional N-cadherin is necessary for chondrogenesis to proceed both in vivo and in vitro. Limb mesenchymal cells exhibited characteristic Ca(2+)-dependent cell aggregation in suspension, which was inhibited in the presence of exogenous NCD-2. In micromass cultures of limb mesenchymal cells, NCD-2 inhibited overt chondrogenesis in a dose-dependent manner. Furthermore, NCD-2 inhibition of chondrogenesis in micromass cultures was time-dependent, suggesting that N-cadherin is crucially involved during the latter half of the first 24 hours of culture, a time period most likely corresponding to active cellular condensation. NCD-2 also significantly influenced limb development when injected into embryonic limb buds in vivo. In addition to significant inhibition of chondrogenesis and developmental delays, gross developmental deformities and perturbation of overall pattern formation were also observed. Taken together, these results demonstrate that N-cadherin is functionally required in mediating the cell-cell interactions among mesenchymal cells important for chondrogenesis in micromass culture in vitro and in the intact limb bud in vivo.

Animals↗

PubMed2005

Dermatologic signs in patients with eating disorders.

Eating disorders are significant causes of morbidity and mortality in adolescent females and young women. They are associated with severe medical and psychological consequences, including death, osteoporosis, growth delay and developmental delay. Dermatologic symptoms are almost always detectable in patients with severe anorexia nervosa (AN) and bulimia nervosa (BN), and awareness of these may help in the early diagnosis of hidden AN or BN. Cutaneous manifestations are the expression of the medical consequences of starvation, vomiting, abuse of drugs (such as laxatives and diuretics), and of psychiatric morbidity. These manifestations include xerosis, lanugo-like body hair, telogen effluvium, carotenoderma, acne, hyperpigmentation, seborrheic dermatitis, acrocyanosis, perniosis, petechiae, livedo reticularis, interdigital intertrigo, paronychia, generalized pruritus, acquired striae distensae, slower wound healing, prurigo pigmentosa, edema, linear erythema craquele, acral coldness, pellagra, scurvy, and acrodermatitis enteropathica. The most characteristic cutaneous sign of vomiting is Russell's sign (knuckle calluses). Symptoms arising from laxative or diuretic abuse include adverse reactions to drugs. Symptoms arising from psychiatric morbidity (artefacta) include the consequences of self-induced trauma. The role of the dermatologist in the management of eating disorders is to make an early diagnosis of the 'hidden' signs of these disorders in patients who tend to minimize or deny their disorder, and to avoid over-treatment of conditions which are overemphasized by patients' distorted perception of skin appearance. Even though skin signs of eating disorders improve with weight gain, the dermatologist will be asked to treat the dermatological conditions mentioned above. Xerosis improves with moisturizing ointments and humidification of the environment. Acne may be treated with topical benzoyl peroxide, antibacterials or azaleic acid; these agents may be administered as monotherapy or in combinations. Combination antibacterials, such as erythromycin with zinc, are also recommended because of the possibility of zinc deficiency in patients with eating disorders. The antiandrogen cyproterone acetate combined with 35 microg ethinyl estradiol may improve acne in women with AN and should be given for 2-4 months. Cheilitis, angular stomatitis, and nail fragility appear to respond to topical tocopherol (vitamin E). Russell's sign may decrease in size following applications of ointments that contain urea. Regular dental treatment is required to avoid tooth loss.

Adolescent↗

PubMed2003

Diagnosis of eating disorders in primary care.

Eating disorders, particularly anorexia nervosa and bulimia nervosa, are significant causes of morbidity and mortality among adolescent females and young women. Eating disorders are associated with devastating medical and psychologic consequences, including death, osteoporosis, growth delay, and developmental delay. Prompt diagnosis is linked to better outcomes. A good medical history is the most powerful tool. Simple screening questions, such as "Do you think you should be dieting?" can be integrated into routine visits. Physical findings such as low body mass index, amenorrhea, bradycardia, gastrointestinal disturbances, skin changes, and changes in dentition can help detect eating disorders. Laboratory studies can help diagnose these conditions and exclude underlying medical conditions. The family physician can play an important role in diagnosing these illnesses and can coordinate the multidisciplinary team of psychiatrists, nutritionists, and other professionals to successfully treat patients with eating disorders.

Anorexia Nervosa↗

PubMed1989

Neurodevelopmental progress of young children with chronic renal disease.

Neurodevelopmental progress was prospectively studied in 33 children with chronic renal disease during a mean of 1.68 years. The mean age of the children when first evaluated was 1.11 years. Children with all levels of renal dysfunction were included, although end stage renal disease developed in 17 at some time during the study. When last evaluated, 10 of the children were developmentally delayed, 8 mildly delayed, and 2 moderately delayed. The developmental level achieved was significantly related to the children's growth and to the severity of their renal impairment. Also found was a strong correlation between the developmental quotients at first and final evaluations. This finding suggests that improvement throughout time is unlikely and underlines the need for early diagnosis and treatment of such infants. These observations suggest that the neurodevelopmental outcome of infants with chronic renal disease is considerably better than previously reported.

Child↗

PubMed1989

Language growth in children with expressive language delay.

Developmental expressive language disorder is a frequently occurring condition in children, characterized by severe delay in the development of expressive language compared with receptive language and cognitive skills. Opinions differ regarding whether expressive language delay is a disorder worthy of active intervention or an indication of normal variation in the onset of expressive language. The purpose of this research was to follow for 5 months 26 2-year-old children in whom expressive language disorder had been carefully diagnosed to discover the rate of improvement and its predictors. Improvement was variable, with approximately one third of the children showing no improvement, one third showing mild improvement, and one third in the normal range at posttest. Nearly two thirds of the variance in improvement could be accounted for by three child variables measured by the pretest: parentally reported vocabulary size, parentally reported problems with having regular meals, and observed frequency of quiet activity not requiring the parent's management. A screening procedure involving only one of those variables, reported vocabulary size, was 81% accurate in identifying children's improvement status. The implications of these results for the management of children with expressive language disorder are discussed.

Child Behavior Disorders↗

PubMed2000

Neuromotor spectrum of periventricular leukomalacia in children born at term.

The spectrum of neuromotor abnormalities of term children with periventricular leukomalacia (PVL) has never been specifically defined. We report 12 term children with PVL to delineate its long-term clinical correlates. A retrospective review of a standardized computer database and files of a single pediatric neurologist during a 7-year period was performed. The imaging studies were reviewed independently by two neuroradiologists. The mean age of the patients at the initial neurologic assessment was 24. 4 months (range 5-60); nine were males. The reason for the assessment was developmental delay in 10 (83.3%), seizure in one, and attention-deficit-hyperactivity disorder in one. Three children (25%) had normal motor examinations, three (25%) were hypotonic, three (25%) had spastic diplegia, two (16.7%) had spastic quadriplegia, and one (8.3%) had fine-motor abnormalities. Nine children (75%) had developmental delay (severe global delay in six), and two children (16.7%) had epilepsy; electroencephalograms were abnormal in six (50%). PVL was mild in five (41.7%), moderate in two (16.6%), and severe in five (41.7%) children. Four of eight children with global developmental delay had enlargement of cerebral sulci in addition to white matter changes. PVL in term children presents with a spectrum of neurologic abnormalities, particularly developmental delay and heterogeneous motor findings not limited to classic spastic diplegia. The clinician should consider the diagnosis of PVL in the context of term children with developmental delay and motor abnormalities, even in the absence of perinatal difficulties.

Child, Preschool↗

PubMed1996

Partial deletion of the long arm of chromosome 11: ten Japanese children.

The clinical features of partial deletion 11q were correlated with the size of the deleted region. Ten Japanese children with partial deletion of 11q were investigated. They were divided into three groups. Three patients in the first group had interstitial deletions and preserved subband q24.1. Six patients in the second group demonstrated terminal deletion of 11q including subband q24.1, with typical features of 11q- syndrome (Jacobsen syndrome). The third group included only one patient, who had terminal deletion of 11q without characteristics of typical 11q- syndrome. Prominent features of patients in the first group included severe mental and motor developmental delay, seizures, cleft lip and palate, and ophthalmological findings. Patients in the second group showed mild to moderate developmental delays without deterioration. Abnormalities in neuroimages, high intensity in the cerebral white matter in T2-weighted magnetic resonance (MR) images, and recurrent infections were not observed after the age of 7 years. The subject in the third group, with the smallest amount of deleted chromosome, did not show developmental delays, suggesting that some unknown genes related to developmental delays may be located adjacent to subband q24.1. Variation in the deleted parts of 11q resulted in different clinical features in each group.

Abnormalities, Multiple↗

PubMed1989

Early diagnosis and secondary prevention of Duchenne muscular dystrophy.

A total of 33 young boys (mean age 3.4 years) with Duchenne muscular dystrophy and 21 normal controls (mean age 3.5 years) were assessed using the Griffiths's mental development scales and the Reynell language scales. The boys with Duchenne muscular dystrophy were significantly developmentally delayed when compared with the control group. The developmental delay was most pronounced in locomotor function and language. There was no significant difference in social class distribution. Early diagnosis of Duchenne muscular dystrophy is of vital importance if secondary cases within families are to be prevented. While diagnosis is still unacceptably late in most cases, it can be improved if all boys with this pattern of developmental delay are screened for Duchenne muscular dystrophy by measurement of creatine kinase activity.

Child↗

PubMed2003

D-2-hydroxyglutaric aciduria: a case with an intermediate phenotype and prenatal diagnosis of two affected fetuses.

D-2-hydroxyglutaric aciduria (D2HGA) is a rare autosomal recessive disorder with variable clinical expression. The biochemical defect is unknown at present. Previously reported cases have either followed a severe clinical course characterized by neonatal epileptic encephalopathy, cortical blindness, and profound developmental delay, or a mild course characterized by mild developmental delay, manageable epilepsy, and mild hypotonia. To date there has been a clear distinction between these two groups. We report the second case of a child with D2HGA who has followed an intermediate course. She presented in infancy with hypotonia, manageable epilepsy and developed moderate to severe developmental delay, and cortical visual impairment. The proposita had a coarse facial appearance, flat face, broad nasal bridge, up-turned nose, and simple, anteverted ears. These facial anomalies have been noted in other children with D2HGA and this case strengthens the proposed association between this facial phenotype and D2HGA. We also report the third and fourth instances of prenatal diagnosis for D2HGA. At each prenatal diagnosis, an affected fetus was diagnosed on the basis of markedly increased levels of D-2-hydroxyglutaric acid in amniotic fluid.

Adult↗

PubMed2005

Profile of pediatric hemiparesis.

Our objective was to determine the clinical spectrum of pediatric hemiparesis by identifying the relative frequency of various diagnoses and comorbid conditions seen in these children. Case records of all patients with hemiparesis in a single practice over an 11-year period were reviewed with reference to clinical features, etiologic determination, and comorbid conditions. Ninety-two children were identified: 73 (79.3%) had a congenital hemiparesis and 19 (20.7%) had an acquired hemiparesis. An abnormal perinatal history (P = .003), prematurity (P = .016), and younger age at onset of symptoms (P < .001) were associated with a congenital hemiparesis. The overall etiologic yield was 83.7% (82.2% in the congenital and 89.5% in the acquired). The top four etiologic entities were cerebrovascular ischemia (40.2%), periventricular leukomalacia (18.5%), intracranial hemorrhage (16.3%), and cerebral dysgenesis (13%). Factors predictive of establishing an underlying etiology included birth prior to 34 weeks' gestation (P = .034), global developmental delay (P = .048), epilepsy (P = .024), and having appropriate imaging modalities (P = .001). Half of these children had a concurrent global developmental delay, associated epilepsy (odds ratio 3.67; 95% confidence interval 1.40-9.72), and prematurity (odds ratio 5.41; 95% confidence interval 1.56-18.80). A third of these children developed epilepsy. Multivariate predictive factors for epilepsy included global developmental delay (odds ratio 4.20; 95% confidence interval 1.44-12.27), cerebrovascular ischemia (odds ratio 5.10; 95% confidence interval 1.76-14.77), and term birth (odds ratio 3.87; 95% confidence interval 1.20-12.56). The majority of children with hemiparesis have a congenital etiology. The diagnostic yield is higher than previously reported; however, specific underlying etiologies need to be better determined. Comorbid conditions of global developmental delay and epilepsy have a high prevalence in this population, contributing to overall morbidity.

Adolescent↗

PubMed1983

Changes in infant morbidity associated with decreases in neonatal mortality.

Neonatal mortality and morbidity among infants surviving to 1 year of age in eight geographic areas have been compared to determine whether recent decreases in mortality have affected the risk of infants having congenital anomalies or developmental delay. Mortality was obtained from birth and death records in 1976 and either 1978 or 1979; morbidity through home interviews with mothers of random samples of infants and developmental observations on the children. It is concluded that the decrease in mortality was not offset by increases in children with defects. Neonatal mortality decreased by 18% in this 2- to 3-year period; risk of congenital anomalies or developmental delay (all types combined) declined by 16% among the surviving infants. The reduction in risk was concentrated in the minor congenital anomalies or developmental delay category; the proportion of children with severe or moderate congenital anomalies or developmental delay did not change. Decreases occurred at every birth weight including the very low birth weights of 1,500 g or less, a subgroup with especially high mortality and morbidity resulting from perinatal events.

Birth Weight↗