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PubMed2001

Lactic acid elevation in extramitochondrial childhood neurodegenerative diseases.

We report three children, each of whom seemed to have a primary mitochondrial disorder at presentation but was eventually diagnosed with an extramitochondrial inherited metabolic disease. The first patient presented at 6 months with developmental delay. Magnetic resonance imaging showed an abnormal signal in the white matter, and magnetic resonance spectroscopy showed elevated lactate peaks. A muscle biopsy showed complex IV deficiency, but leukocyte measurement of galactosylceramide beta-galactosidase activity was markedly diminished, consistent with Krabbe's disease. The second patient presented at birth with seizures and later had developmental delays. There was brain atrophy on neuroimaging. Serum and cerebrospinal fluid lactate levels were elevated. She had persistently elevated urine thiosulfate, which was diagnostic for molybdenum cofactor deficiency. The third child presented at 2 months with seizures and hypotonia. Magnetic resonance imaging showed an abnormal signal in the basal ganglia and surrounding white matter, whereas magnetic resonance spectroscopy showed elevated lactate peaks. A brain biopsy was diagnostic for Alexander's disease. These cases and others in the literature suggest that lactic acid elevation in the central nervous system can be found in a number of extramitochondrial neurologic diseases. Such diseases would constitute a third category of lactic acidosis.

Acidosis, Lactic↗
PubMed2005

Chronic zinc toxicity in an infant who received zinc therapy for atopic dermatitis.

UNLABELLED: In Japan and many other industrialized countries, zinc is readily available as a nutritional supplement, for cosmetic purposes and for the treatment of atopic dermatitis. The potential risks associated with its use are not, however, fully recognized. As a reciprocal relationship exists between copper and zinc, excessive zinc can produce hypocupraemia, which can cause anaemia and neutropenia. We report on a male infant who presented with anaemia and neutropenia and showed signs of developmental delay after dietary restriction for food allergy and eating difficulties and zinc therapy administered for the treatment of atopic dermatitis at a dose nine times the daily dietary allowance for his age group. After 1 mo of zinc withdrawal, copper and ceruloplasmin concentrations had increased, and the blood cell count had improved, activity was increasing but verbal development remained limited. As development improved after withdrawal of zinc, we cannot rule out a relation between developmental delay and hyperzincaemia and/or hypocupraemia. CONCLUSION: Caution must be exercised in administering zinc to children during their neurological development.

Chronic Disease↗
PubMed2004

Clinical variability in KBG syndrome: report of three unrelated families.

The KBG syndrome is characterized by short stature, macrodontia, a specific combination of minor anomalies, developmental delay, and/or mental retardation. We reported on four patients from three unrelated families. The most frequent clinical findings were: atypical face, long/flat philtrum, thin upper lip, macrodontia, dental malposition, enamel hypoplasia, and cleft teeth. Skeletal anomalies such as cervical ribs and vertebral abnormalities were also noted. Hand anomalies were observed in three patients. Mental retardation and developmental delay were present in three of the four patients. There is wide clinical variability in the expression of this syndrome. The males are usually more severely affected then the females, suggesting possible X-linked inheritance in some cases.

Abnormalities, Multiple↗
PubMed1998

Classifying complex pediatric feeding disorders.

BACKGROUND: This study defines the multiple characteristics associated with complex pediatric feeding problems and determines the relative frequency of each classification in a population referred to an interdisciplinary feeding team. METHODS: The written reports from team evaluations on 103 children (64 males, 39 females; age range 4 months to 17 years) were reviewed. Prematurity and/or presence of developmental delay was coded. Identified factors related to current feeding problems were coded according to five categories: structural abnormalities, neurological conditions, behavioral issues, cardiorespiratory problems, metabolic dysfunction. RESULTS: Interrater reliability for the classification coding was 88%. Thirty-eight percent of the children had a history of pre- maturity and 74% were reported to have evidence of developmental delay. The following five categories or combinations were coded most frequently: structural-neurological-behavioral (30%), neurological-behavioral (27%), behavioral (12%), structural-behavioral (9%), and structural-neurological (8%). Overall, behavioral issues were coded more often (85%) than neurological conditions (73%), structural abnormalities (57%), cardiorespiratory problems (7%), or metabolic dysfunction (5%). CONCLUSIONS: Data analysis using this classification system revealed that the majority of children in this sample had a behavioral component to their complex feeding problem, regardless of concurrent physical factors. These findings suggest that complex pediatric feeding problems are biobehavioral conditions in which biological and behavioral aspects mutually interact, and both need to be addressed to achieve normal feeding.

Adolescent↗
PubMed2005

Improved neurodevelopmental outcomes following long-term high-dose oral acyclovir therapy in infants with central nervous system and disseminated herpes simplex disease.

OBJECTIVE: Infants with neonatal herpes, classified as central nervous system or disseminated disease, have a high incidence of moderate and severe neurologic deficits despite standard acute therapy. STUDY DESIGN: Following completion of parenteral therapy, infants with central nervous system and/or disseminated disease received 2 years of continuous oral acyclovir therapy. Target minimum peak serum acyclovir concentrations were >2 microg/ml for the first three patients, and >3 microg/ml for the subsequent 13 patients. Safety assessments were made every 3 months. We evaluated neurodevelopmental outcomes with Bayley Scales of Infant Development. RESULTS: A total of 16 consecutive herpes simplex virus-infected infants born during 1990 to 2003 received the treatment plan; 13/16 infants had central nervous system disease; 3 had disseminated disease without central nervous system involvement. A total of 69% (11/16) had Bayley scores in the normal range for mental development and 79% (11/14) had motor scores in the normal range. At the final assessment, five children had developmental delays. One child had severe mental delay with normal motor development. Four children had mild mental delays, with severe motor delays in three. All children were independently mobile, without seizure disorder, had normal vision, and had speech development. During the 2-year course of treatment, five children had brief recurrences of dermal lesions, and none had evidence of neurologic deterioration. There were no serious or sustained adverse drug reactions. CONCLUSION: This pilot study reports improved outcomes in a small cohort of infants with a prolonged course of oral acyclovir. A minority of these children exhibited mild or significant developmental delays. Further investigation of this approach to treatment is warranted.

Acyclovir↗
PubMed1994

Fine motor deficit: an etiologically distinct entity.

The prevalence of risk and adverse factors associated with fine motor disorder (n = 35) were compared with gross motor deficit (n = 158), global developmental delay (n = 336), and combined fine and gross motor deficit among 1,241 children up to 3 years of age identified in the Haifa health district. A significantly increased preponderance of males was observed among the study group as compared to the group with gross motor deficit. Intranatal problems were significantly increased among children with fine motor deficits as compared to those with gross motor deficits as were minor physical anomalies, seizures, and behavioral deficits. Less significant differences were observed between the study group and children with global developmental delay or fine and gross motor deficit. The different risk factor profiles indicated that the children with fine motor deficits constituted an etiologically distinct group highly associated with early antepartum, possibly genetic, origins.

Brain Damage, Chronic↗
PubMed2004

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

BACKGROUND: Patients with permanent neonatal diabetes usually present within the first three months of life and require insulin treatment. In most, the cause is unknown. Because ATP-sensitive potassium (K(ATP)) channels mediate glucose-stimulated insulin secretion from the pancreatic beta cells, we hypothesized that activating mutations in the gene encoding the Kir6.2 subunit of this channel (KCNJ11) cause neonatal diabetes. METHODS: We sequenced the KCNJ11 gene in 29 patients with permanent neonatal diabetes. The insulin secretory response to intravenous glucagon, glucose, and the sulfonylurea tolbutamide was assessed in patients who had mutations in the gene. RESULTS: Six novel, heterozygous missense mutations were identified in 10 of the 29 patients. In two patients the diabetes was familial, and in eight it arose from a spontaneous mutation. Their neonatal diabetes was characterized by ketoacidosis or marked hyperglycemia and was treated with insulin. Patients did not secrete insulin in response to glucose or glucagon but did secrete insulin in response to tolbutamide. Four of the patients also had severe developmental delay and muscle weakness; three of them also had epilepsy and mild dysmorphic features. When the most common mutation in Kir6.2 was coexpressed with sulfonylurea receptor 1 in Xenopus laevis oocytes, the ability of ATP to block mutant K(ATP) channels was greatly reduced. CONCLUSIONS: Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and may also be associated with developmental delay, muscle weakness, and epilepsy. Identification of the genetic cause of permanent neonatal diabetes may facilitate the treatment of this disease with sulfonylureas.

DNA Mutational Analysis↗
PubMed1989

Pattern of malformations in the children of women treated with carbamazepine during pregnancy.

In an attempt to determine whether and to what extent carbamazepine is teratogenic, we evaluated eight children whom we identified retrospectively as having had prenatal exposure to carbamazepine alone or in combination with a variety of anticonvulsants other than phenytoin. In addition, in a prospective study, we documented the outcome of the pregnancies of 72 women who contacted us early in pregnancy because they were concerned about the potential teratogenicity of carbamazepine. A pattern of malformation, the principal features of which are minor craniofacial defects and fingernail hypoplasia, and of developmental delay was identified in the eight children retrospectively ascertained to have been exposed to carbamazepine in utero; this pattern was subsequently confirmed through the evaluation of 48 children born alive to the women in the prospective study. That carbamazepine itself is teratogenic is indicated by the incidence of craniofacial defects (11 percent), fingernail hypoplasia (26 percent), and developmental delay (20 percent) in the 35 live-born children of the women in the prospective study who were exposed prenatally to carbamazepine alone. The similarity between the children exposed prenatally to carbamazepine and those with the fetal hydantoin syndrome is probably related to the fact that both drugs are metabolized through the arene oxide pathway and raises the possibility that it is the epoxide intermediate rather than the specific drug itself that is the teratogenic agent.

Abnormalities, Drug-Induced↗
PubMed2007

KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

KBG syndrome is a multiple congenital anomaly (MCA) syndrome comprising developmental delay, postnatal short stature, and delayed bone age. Many physical anomalies involving the face, hands, and costovertebral axis have been described in this syndrome. We present twin males with KBG syndrome and a review of 50 published case reports, with particular emphasis on the neurological aspects of KBG syndrome, including seizures, MRI findings, and behavior difficulties. It is argued that diagnostic criteria for KBG syndrome should include neurological involvement, that is, global developmental delay, seizures, and/or mental retardation (MR). The characteristic facial changes and representative hand and costovertebral anomalies are also defined. These diagnostic criteria were obtained from 50 publications and appeared to support the diagnosis in 43 cases. They will be helpful to pediatricians, geneticists, and neurologists in evaluating patients for this condition.

Abnormalities, Multiple↗
PubMed2002

Infantile hypotonia as a presentation of Rett syndrome.

Rett syndrome (RTT) is classically defined by meeting certain clinical diagnostic criteria. It affects mostly females, and one possible pathogenic mechanism was considered to involve mitochondrial function. This was based on the finding of ultrastructural alterations in the mitochondria and decreased respiratory chain enzyme activity. However, the principal etiology of RTT has since been found to be mutations in the MECP2 gene, which is located on the X chromosome. Molecular analysis has allowed the phenotype of MECP2 mutations to be broadened beyond RTT to include girls who have mild mental retardation, autism, and an Angelman syndrome phenotype, as well as males with severe encephalopathy. We present a girl with a previously described mutation in the MECP2 gene whose phenotype is of atypical RTT. She presented with hypotonia and developmental delay in infancy without a clear period of normal development. As part of her evaluation for hypotonia, a muscle biopsy and respiratory chain enzyme analysis showed a slight decrease in respiratory chain enzyme activity consistent with previous reports. This report supports broadening the phenotype of patients who should be considered for MECP2 mutation analysis to include cases of developmental delay and hypotonia without evidence of an initial period of normal development. Furthermore, it supports the hypothesis of an underlying secondary defect in energy metabolism contributing to the pathogenesis of RTT.

Amino Acid Substitution↗
PubMedDate not supplied

[Galactosemia: the genotype and phenotype of seven patients].

INTRODUCTION: Despite early dietary therapy, many patients with galactosemia show a neurodegenerative disease specially evident in speech impairment and movement disorders. Magnetic resonance imaging of the brain, show cerebral white matter changes with hypomielinization bilateral and symetrical periventricular hypersignal in T2. PATIENTS AND METHODS: We presented clinical and neuroradiological data of seven children (3 to 12 years of age) with classical galactosemia. All had a typical presentation in neonatal period. Two children had normal development (10 and 12 years-old), four presented developmental delay (10, 7, 4 and 3 years-old), and one showed a dystonic cerebral palsy (kernicterus). RESULTS: The brain MRI showed the typical involvement of white matter, in five children, and basal ganglia abnormalities in the kernicterus patient. Three patients are homozygous for Q188R mutation and two are compound heterozygous. CONCLUSION: We found a positive correlation among developmental delay, white matter involvement and Q188R mutation.

Brain↗
PubMedDate not supplied

Fucosidosis with hypothyroidism: a case report.

Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical history was also remarkable for recurrent pulmonary infections and myoclonic seiures. His family history revealed that he was the first living child from a consanguineous marriage. He had a younger sister who died at five months of age from pneumonia who had facial resemblance to the proband, developmental delay and a congenital heart defect. Physical examination revealed length: 81 cm (25-50p), weight: 10.2 kg (25-50p), and head circumference: 49 cm (50-75p). He had a coarse face, hepatomegaly and generalized spasticity. His initial laboratory examination revealed negative urine screening column chromatography for mucopolysaccharidosis. His X-ray findings were consistent with mild form of dysostosis multiplex. Based on clinical and laboratory features, fucosidosis was suspected. Fucosidase enzyme activity was zero. In addition to fucosidosis, thyroid function tests indicated primary hypothyroidism. This is, to the best of our knowledge, the fourth case of fucosidosis diagnosed in Turkey.

Bone and Bones↗
PubMed2006

Gray matter abnormalities in autism spectrum disorder revealed by T2 relaxation.

OBJECTIVE: To perform quantitative T2 relaxation measurements to evaluate cerebral water content in children with autism. METHODS: Sixty 2- to 4-year-old children with autism spectrum disorder (ASD), 16 age-matched children with idiopathic developmental delay (DD), and 10 children with typical development (TD) were scanned on a 1.5 T GE MRI scanner to obtain dual-echo fast spin echo images (2.5 mm thick, 0-mm gap). Images were segmented into gray and white matter and used to mask regions of interest for calculating T2 for each tissue type. Analysis of variance, covarying for age and sex, was used to compare T2 between groups, and correlations were used to compare T2 to IQ measures. RESULTS: Children with ASD had prolonged cortical gray matter T2, but white matter T2 was not significantly different, compared with the children with TD. T2 was prolonged in cortical gray matter and white matter in children with DD compared with children with ASD or TD. Significant interactions between T2 measures and IQ were not observed. CONCLUSIONS: Prolonged gray and white matter T2 in the children with developmental delay likely represents a delay in neuronal development and maturation. Prolonged T2 in gray matter, but not white matter, observed in children with autism spectrum disorder may signify abnormal developmental processes specific to autism.

Autistic Disorder↗
PubMed1998

Relationship between reason for placement and medical findings among children in foster care.

OBJECTIVE: To determine the reasons for placement of children in foster care, the prevalence of medical findings during initial placement, and the relationship between reason for placement and medical findings. The association between placement reasons and parental substance abuse also was explored. METHODS: Population-based analysis of medical records of 749 children examined at the Child Protection Center in San Francisco from October 1, 1991, to December 31, 1992. Health evaluations consisted of a clearance examination of children during entry into foster care and a comprehensive examination 3 weeks later. Reasons for foster placement included abandonment, neglect, no available caretaker, physical abuse, sexual abuse, and failed placement. RESULTS: Nearly 50% of children in our study were < 6 years of age. Neglect (30%), physical abuse (25%), and no available caretaker (24%) were the most frequent placement reasons, followed by abandonment (9%), failed placement (7%), and sexual abuse (5%). Substance abuse was documented in 30% of parents, 51% when the placement reason was neglect. Medical findings were identified in 60% of children. Among 0 to 6-year-olds, 27% had upper respiratory illnesses, 23% had developmental delay, and 21% had skin conditions; for children 7 to 12 years of age, 32% failed vision screening, 12% had dental caries, and 11% had upper respiratory illnesses; and among 13- to 18-year-olds, 31% failed vision screening and 12% had positive tuberculin skin tests. For younger children, skin conditions were associated with neglect, no available care taker, and failed placement, and developmental delay with neglect and abandonment. For adolescents, history of psychiatric illness was associated with neglect and failed placement. Marks of abuse for all age groups were limited to children who had been physically abused. Three or more diagnoses were identified for approximately 20% of children who had been neglected or abandoned or had failed placement, compared with 10% of children who had been either physically or sexually abused. CONCLUSIONS: Specific medical findings associated with reasons for placement provide health professionals with additional information to assess more accurately the health care needs of children entering foster care. As important, screening tests revealed high rates of vision problems and exposures to tuberculosis, warranting earlier and more comprehensive screening. Finally, children who have endured variations of neglect or failed placement may have more health problems than anticipated previously.

Adolescent↗
PubMedDate not supplied

[Prader-Labhart-Willi syndrome in infants].

We report an infant with severe hypotonia, feeding problems and failure to thrive in the neonatal period, followed by developmental delay. In addition, pale skin, eyelid and pedal edema, cryptorchidism and micrognathia were present. The tentative diagnosis of Prader-Labhart-Willi syndrome was made and confirmed by specific molecular testing at the age of 5 months. The Prader-Labhart-Willi syndrome is usually diagnosed in older infants when the main clinical features such as obesity, short stature, hypogonadism and developmental delay become obvious, in most of the patients typical clinical features are present already in the neonatal period. In conclusion, in neonates and young infants presenting with hypotonia and feeding problems, the Prader-Labhart-Willi syndrome should be considered.

Autoantigens↗
PubMed1989

A critique of therapeutic intervention programming with reference to an alternative approach based on motor learning theory.

As an alternative to current therapeutic intervention programming for developmentally delayed children, a rationale for intervention programming based on theories of motor control and learning is presented. The authors believe that the keys to successful motor training programs are repetition, correctly performed practice of functional skills, and sufficient learning time to facilitate skill retention and transfer. In order for therapists to construct and implement the most appropriate motor training programs for developmentally delayed children, they must be knowledgeable of the sensory-motor basis of motor skill acquisition. Some of the more important concepts of motor control and learning are presented.

Journal Article↗
PubMed2005

Small-for-gestational-age infants need dietary quality more than quantity for their development: the role of human milk.

UNLABELLED: Infants born small for gestational age (SGA) show some forms of developmental delay throughout paediatric age, and up to adolescence. The positive effect of breastfeeding on development, observed in most studies on healthy, term infants, seems to be further stressed in the group of SGA infants, particularly if breastfeeding is protracted. Besides the close maternal-infant contact of breastfeeding, the nutritional factors of human milk, above all long-chain polyunsaturated fatty acids, including docosahexaenoic acid, may at least partly account for the observed association. CONCLUSION: SGA infants represent a high-risk group, not only for developmental delay, but also for long-term, unfavourable metabolic consequences. Breastfeeding and human milk quality together could help to prevent some of the neurological and metabolic sequelae of being born growth retarded.

Breast Feeding↗
PubMedDate not supplied

Stress-buffering effects of social support on maternal discipline.

The purpose of this study was to investigate whether social support and stress influence maternal discipline of the six-month to three-year-old child with a developmental delay. Ninety-one mothers completed self-administered measures of support, stress, and discipline. Results of multiple regression analyses revealed that the stress and support interaction variable showed a strong trend (p less than .09) in predicting restrictive discipline. The failure of the independent variables, social support and stress, to have significant main effects appeared to be due, in part, to the multicollinearity (r = -.51, p less than .001) of these variables. For subsequent analyses, stress was used as a categorization variable. The total number of subjects was categorized first into two subgroups using a median split--high or low maternal stress--and into two other subgroups based on number of developmental delays. Pearson correlations indicated that social support was inversely related to restrictive discipline for high-stress mothers, but not for low-stress mothers. The positive influence of social support was also found for mothers of children with three to five delays but not for mothers of children with one to two delays. A negative response style of maternal discipline was reduced when the mother felt supported.

Adult↗