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PubMed1999

A neurodystrophic syndrome resembling carbohydrate-deficient glycoprotein syndrome type III.

A 10-month old girl is described with a serum transferrin isoform abnormality of the same kind as in two previously reported girls with carbohydrate-deficient glycoprotein syndrome type III. This patient presented with joint abnormalities and rapidly developing hypsarrhythmia, hypotonia, psychomotor delay and growth retardation. Fingers, toes, nails and local skin were dysmorphic. She had pale optic discs, thoracic syringomyelia and frontal lobe atrophy at three months. The CDT value in serum was greatly elevated. Several carbohydrate-deficient isoforms were found in transferrin (four), alpha1-antitrypsin (three), antithrombin (two) and thyroxine-binding globulin (four). Mutations in the CDGS 1-gene were excluded. The CDGS III glycoprotein abnormality most probably represents a distinct disorder of glycoprotein metabolism, and needs to be considered in unclear hypsarrhythmia with developmental delay. Dysmorphic features may be added to this syndrome.

Abnormalities, Multiple↗
PubMed1992

Delayed recognition of human immunodeficiency virus infection in preadolescent children.

Thirty-two (18%) of 181 children cared for at our institution who were infected with the human immunodeficiency virus type 1 (HIV-1) were first seen, and HIV was diagnosed, when they were 4 years of age and older. Initial complaints or diagnoses for these children included the following: hematologic disorders (5) (3 idiopathic thrombocytopenic purpura, 1 neutropenia, 1 anemia); recurrent bacterial infections (10); Pneumocystis carinii pneumonia (3); developmental delay (1); skin disorders (2) (1 genital wart, 1 chronic zoster); weight loss (3); malignancy (1); and nephropathy (1). Eight children were referred for evaluation because of maternal HIV-1 infection. The risk factors for HIV-1 infection included maternal/perinatal exposure (22), perinatal blood transfusion (6), blood transfusion during infancy (2), and sexual abuse (2). Ten (31%) of the 32 children have subsequently died. The longest survival from perinatal infection was 12 years. HIV-1 infection in children can result in a prolonged clinical latency and can masquerade as other pathologic conditions. The absence of clinical symptoms in older children at risk for HIV-1 infection should not deter HIV testing.

Child↗
PubMed1999

Visuo-spatial and linguistic abilities in a twin with Williams syndrome.

The present study reports a case of dizygotic twins, one boy with Williams syndrome (WS) and one typically developing girl, and compares their neuropsychological profiles. The goal of the present authors was to verify whether the child with WS displayed a cognitive profile which is unique to the syndrome. Several tests designed to assess visuo-perceptual, visuo-motor, linguistic and memory abilities were administered to both children when they were 10.9 years old. Compared to his sister, the boy with WS displayed a homogeneous developmental delay in both non-verbal and verbal abilities. He achieved a level of performance similar to his sister only in facial recognition, phonological word fluency and memory for phonologically similar words. Furthermore, despite the overall delayed performance of the boy, both the twins displayed a cognitive profile characterized by strength in lexical comprehension and relative weakness in visuo-motor abilities.

Child↗
PubMedDate not supplied

Secundum-type atrial septal defects with failure to thrive in the first year of life.

This article summarizes the case histories of six infants who had isolated secundum-type atrial septal defects (ASDs) and presented with failure to thrive in the first year of life. Patients underwent operative closure of their ASD with the expectation that this would improve their feeding and growth pattern. Five of the six children demonstrated little or no improvement in symptoms following operation. Each of these five patients have subsequently shown signs of developmental delay. Our experience with this group suggests that failure to thrive associated with a secundum ASD will frequently have a noncardiac basis.

Child Development↗
PubMed1999

Child care and employment in relation to infants' disabilities and risk factors.

The impact of disability- and risk-related characteristics of 166 infants on their mothers' employment and child-care characteristics and decisions was investigated. Mothers' employment plans and child-care decisions were affected by their children's special needs (chronic health problems; use of adaptive equipment; total risks; diagnosis; and mental, motor, and adaptive functioning). Child-care characteristics were related most consistently to the children's diagnoses. Infants diagnosed with Down syndrome compared with those whose developmental delays were of unknown origin entered child care earlier and were more likely to be in centers and to be receiving lower quality care.

Adult↗
PubMed2001

Universal newborn hearing screening coming soon: "hear's" why.

Screening the hearing of all newborns, both NICU and well nursery, is rapidly becoming the standard of care. The impetus for universal newborn hearing screening (UNHS) has come from outside the domain of nursing and the newborn nursery. Because nursing will be involved in nearly all aspects of UNHS, nurses need a thorough knowledge base about permanent childhood hearing loss (PCHL) and UNHS. Technology exisits today that can objectively and physiologically screen for this condition at a cost comparable to metabolic screening. PCHL occurs more than twice as often as all the hemoglobinopathies and inborn errors of metabolism combined. Undiagnosed hearing loss often leads to permanent developmental delays. The ultimate goal of early diagnosis and intervention for a congenital hearing loss is to enable the child to develop language and communication skills that correspond to his chronological age and innate cognitive abilities.

Developmental Disabilities↗
PubMed2005

Subglottic hemangioma: a comparison of CO2 laser, Neodym-Yag laser, and tracheostomy.

For airway obstruction caused by subglottic hemangiomas, tracheostomy is still regarded by some as the only established therapy, despite numerous other therapeutic options. Resection with lasers was also reported, but subglottic scar formation may occur, and different laser types may have advantages over others. The charts of 46 consecutive patients over 26 years were reviewed. Until 1986, therapy involved systemic steroids or tracheostomy. Thereafter, a Neodym-Yag and after 1995 a CO2 laser was used. Mean initial stenosis was 61.0% in the first (n=15), 85.8% in the Neodym-Yag (n=14), and 86.7% in the CO2 period (n=17). Tracheostomy rates could be reduced from 76.9% to 46.9% with the Neodym-Yag and to 30.8% with the CO2 laser, and to 22.2% in children not intubated before referral. One tracheostomy obstruction resulted in severe neurological damage; granulomas required resection in 37.5%. Secondary subglottic stenosis was found in 15.4% with the Neodym-Yag, but not with the CO2 laser. With tracheostomy, 12.5% were symptom-free at age 2-3 years, vs. 25.0% in the Neodym-Yag and 41.6% in the CO2 laser period. Speech development was delayed in 75.0% with tracheostomy, and parental anxiety lessened in only 18.8% before the second birthday (68.8% without tracheostomy). Since the end of the retrospective analysis, we treated a further 21 patients (mean stenosis, 83.3%) with the CO2 laser, with only one tracheostomy (4.8%). Compared to steroids and tracheostomy, a significant reduction in morbidity and speech developmental delay, and an improved quality of life, were achieved with CO2 laser resection, and this approach was superior to the Neodym-Yag laser.

Anxiety↗
PubMed1992

Communication deficits and formal thought disorder in schizophrenic children.

This study examined 31 schizophrenic children to determine if they used discourse devices that make speech coherence differently from sex and mental age matched normal children. It also investigated whether the discourse deficits of the schizophrenic children were related to clinical measures of formal thought disorder. Using Halliday and Hassan's analysis of cohesion, the authors found that schizophrenic children underutilize some discourse devices and overutilize others. Several of their discourse deficits were similar to those described in schizophrenic adults. The schizophrenic children, however, also had additional discourse deficits, which probably reflect developmental delays. The authors also demonstrated that the schizophrenic children with loose associations had different discourse deficits and discourse/IQ correlates than schizophrenic children without loose associations. The schizophrenic children receiving neuroleptic medication had lower loose associations scores than the unmedicated subjects. The authors discuss the possible confounding effect of medication and loose associations, as well as the developmental, cognitive, and clinical implications of the study's findings.

Child↗
PubMedDate not supplied

[Effect of monosomy of the autosomes on the preimplantation stages of embryogenesis in laboratory mice].

The effects of monosomy for the autosomes 1, 2, 3, 5, 6, 16 and 19 were studied in mice with single or double Robertsonian translocations. The monosomy for different autosomes affects the preimplantation development of the mouse embryos in different ways. The monosomy for the autosomes 1, 3, 6, 16 or 19 does not affect cleavage, compactization or blastulation and is, in some cases, even compatible with the implantation. The most these embryos are eliminated at the blastocyst stage (monosomy for the autosomes 3, 6 or 19) or, sometimes, at the postimplantation stages (1 or 16). The monosomy for the autosomes 2 or 5 is realized during cleavage causing the developmental delay, pathological changes in the nuclei of blastomeres and elimination at the morula stage. The results obtained suggest differential activity of chromosomes at the preimplantation stages of embryogenesis. Possible reasons for the early death of the embryos with particular types of monosomy are discussed. A hypothesis of mutual activation of the homologous autosomes at the early developmental stages is put forward. According to this hypothesis, the loci of a single unpaired autosome, especially of paternal origin, remain inactive during the early embryogenesis.

Aneuploidy↗
PubMed2000

Controversies in antenatal corticosteroid treatment.

QUESTION: I am following up a former preterm infant, born at 29 weeks' gestation after premature labour. This infant had a relatively benign hospital course and when discharged was not thought to have any complications of prematurity. Despite this, at 1 year old his neurologic examination is abnormal: head circumference is on the 3rd percentile for age (weight on the 25th percentile), and he has increased tone in his lower legs and a moderate developmental delay. His discharge letter indicated that he was exposed antenatally to many doses of dexamethasone. Could this have adversely influenced his neurologic outcome? ANSWER: Antenatal steroids are proven therapy for preventing respiratory distress syndrome and decrease both morbidity and mortality associated with prematurity. Use of multiple doses of antenatal steroids might adversely affect neurologic outcome. There is insufficient evidence to support routine use of multiple doses of antenatal steroids when delivery of a preterm infant is anticipated.

Betamethasone↗
PubMed1992

Development of infants with disabilities and their families: implications for theory and service delivery.

This Monograph presents the results of a nonexperimental, longitudinal investigation of developmental change in 190 infants and their families after 1 year of early intervention services. The Early Intervention Collaborative Study (EICS), conducted in association with 29 community-based programs in Massachusetts and New Hampshire, was designed to assess correlates of adaptation in young children with disabilities and their families over time, to inform social policy by analyzing the influences of family ecology and formal services on child and family outcomes, and to generate conceptual models to guide further investigation. The study sample (mean age at entry = 10.6 months) includes 54 children with Down syndrome, 77 with motor impairment, and 59 with developmental delays of uncertain etiology. Data were collected during two home visits (within 6 weeks of program entry and 12 months later) and included formal child assessments, observations of mother-child interaction, maternal interviews, and questionnaires completed independently by both parents as well as monthly service data collected from service providers. Child and family functioning varied considerably. Developmental change in the children (psychomotor abilities, adaptive behavior, spontaneous play, and child-mother interaction skills) was influenced to some extent by gestational age and health characteristics, but the strongest predictor of change was the relative severity of the child's psychomotor impairment at study entry. Families demonstrated generally positive and stable adaptation (in terms of the effect of rearing a child with disabilities on the family, parenting stress, and social support), despite persistent challenges with respect to mother-child interaction and differences in reported stress between mothers and fathers. Documentation of services revealed that early intervention is a complex and multidimensional experience that spans multiple public and private systems. Vulnerable and resilient subgroups within the sample were identified, and different correlates of adaptive change were demonstrated. Results of data analyses suggest new perspectives on the study of early childhood disability. The implications of the findings for developmental theory and social policy are discussed.

Adaptation, Psychological↗
PubMed1991

Neurologic outcome after electroencephalographically proven neonatal seizures.

Infants in whom neonatal seizures were confirmed by randomly recorded ictal electroencephalographic (EEG) tracings were retrospectively examined to determine their global neurologic outcome and the specific frequency of epilepsy, development delay, and cerebral palsy. Perinatal and postnatal clinical and EEG variables were also examined for their relevance to the neurologic outcome. Forty infants with EEG documented seizures of diverse etiologies were studied. The 27 survivors were followed up at a mean of 31 months. The outcome was unfavorable in 70%. The rate of epilepsy was 56%, of developmental delay 67%, and of cerebral palsy 63%. The etiology of seizures was an important factor influencing the outcome. Other clinical factors that showed a significant relationship with global or specific aspects of the neurologic outcome included the age at the onset of seizures, birth weight, and neurologic examination results. The EEG parameters that significantly predicted the neurologic outcome were interictal EEG background, increased seizure frequency, and decreased seizure duration.

Asphyxia↗
PubMed1984

Cognitive development of unselected girls with complete and partial X monosomy.

The cognitive development of nine girls with 45,X and 45,X variant karyotypes, seven 45,X mosaics, and nine 46,XX control subjects (ages 8 to 17 years) followed since birth was evaluated. The nonmosaic group was slightly delayed in walking, had a moderately decreased full-scale and performance IQ, demonstrated a striking deficit in perceptual organization and fine motor execution, but had generally average language skills. Three nonmosaic girls with low intelligence were identified and one subject had above average intelligence. Intelligence was not correlated with the presence of physical stigmata. No obvious developmental differences were found between the three girls with 45,X variant, two with partial Xq deletions and one with a ring X chromosome, and the six girls with 45,X genotype. The 45,X mosaic group did not experience early developmental delays and was not significantly different from control subjects on any IQ score. A large amount of variability between subjects was noted, which could be partially attributed to family characteristics and socioeconomic conditions. Whereas this study corroborates previous findings of specific intellectual deficits in 45,X populations, it emphasizes the need for caution in estimating the cognitive development of any X and partial X monosomic infant.

Adolescent↗
PubMed1989

Metabolic correlates of learning disability.

To summarize, the neuropsychologic findings in MSUD and MMA children in both groups demonstrated deficits in cognitive/language areas, but interesting individual differences existed. For example, a marked contrast in abilities existed between NT and GV, even taking into account the age difference between these children with MSUD. While NT's general intellectual functioning was within the low-average range, GV was severely impaired. In more specific areas of cognitive functioning, NT had an uneven performance profile with areas of strengths and weaknesses, while GV evidenced a flat profile with significant impairment in all areas. NT demonstrated mild delay in visual-spatial processing, articulation development, motor-speech abilities, and selective attention and concentration; however, his language and psychosocial development were within the broad range of normality. In contrast, GV exhibited severe dysfunction in speech, language, and perceptual/conceptual development. The three children with MMA also exhibited a range of disabilities in cognitive functioning. TJ and SH contrasted in the degree of developmental delay across language and cognitive domains. Both were distractible and exhibited very short attention spans but there was a measurable difference in the extent of their speech, language, visual-spatial development. CH was markedly delayed in all areas of cognitive development, which is consistent with global retardation. The severity of her disease and its probable impact on brain development were undoubtedly related to her intellectual impairment. These datasets illustrate the challenges we face, because within each group we see a range of impairment. Nevertheless, we are optimistic that our efforts to relate metabolic, anatomic and neuropsychologic findings for such children will lead to a better understanding of these disorders. We are hopeful that this will result in new advances in diagnosis and intervention, which will ultimately improve the prognosis for cognitive development. In summary, a multidisciplinary center has been established at UCSD to study the neurologic basis of disorders of language, learning and behavior in infants and children. The center draws together a group of researchers from many fields including neurology, biochemistry, pediatrics, cognitive and developmental neuropsychology, psycholinguistics, neurophysiology and communicative disorders. Because of the diverse interests and expertise of our group, it is hoped to forge a synthesis of the behavioral and neurosciences to study populations of children with a variety of neurologic, metabolic, and language/learning disorders. Disorders currently under study include Lesch-Nyhan disease, oculocutaneous tyrosinemia, propionic acidemia, carnitine palmityl transferase deficiency, Schwachman-Diamond syndrome, histidinemia, Hartnup disease, citrullinemia, galactosemia, maple syrup urine disease, and methylmalonic acidemia.(ABSTRACT TRUNCATED AT 400 WORDS)

Child↗
PubMed2003

Development of the human cerebral cortex: a histochemical study.

In recent years, improvement in diagnostic techniques has led to better recognition of "disorders of cortical development". These disorders constitute a significant cause of epilepsy, mental retardation, developmental delay and neurological deficits in childhood, and may also contribute to the pathogenesis of psychological and neurodegenerative diseases in adults. Hitherto, however, few systematic studies of the human fetal cortex have been performed, and little is known about the ontogenetic processes of the neocortex in man. The aim of the study is to establish an understanding of the developmental events that occur in the second and third trimesters of gestation, by investigating the biochemical patterns of development of the human neocortex during this period. The temporal and spatial patterns of expression of the neuronal markers gamma-aminobutyric acid (GABA), choline acetyltransferase (ChAT), dopamine beta hydroxylase (DBH), dopamine receptor DR1 and synaptophysin, as well as the glial cell markers glial fibrillary acidic protein (GFAP), S100B and excitatory amino acid transporter protein GLT-1 are delineated in the fetal cortex using immunohistochemistry. Results of this study showed that different neuronal and glial cell proteins follow different developmental patterns and many show inter- or intra-regional variations in expression. Details of these patterns are described and discussed. The early expression of these proteins suggests that they play important roles in the developmental processes of cell proliferation, migration and differentiation. Both neurotransmitters and glial cell proteins probably function outside the confines of synapses in the fetal brain, as paracrine/autocrine factors. Early developmental events seem to be dictated by an innate programme, whereas late events may be more susceptible to extrinsic influences. It is hoped that knowledge of the normal developmental process can lead to better understanding of the causes and mechanisms of "disorders of cortical development", and to better treatments.

Acetylcholine↗
PubMed2000

Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism.

Mosaic trisomy 7 is a rare condition that can be seen in individuals with Blaschkolinear skin pigmentary variation, somatic asymmetry, and variable other clinical anomalies. In any patient presenting with Blaschkolinear skin pigmentary variation, varying degrees of asymmetrical growth disturbance, developmental delay, and a normal lymphocytic karyotype, chromosomal mosaicism may be present. To rule out tissue-specific or occult chromosomal mosaicism, it is recommended to culture and karyotype skin fibroblasts, since lymphocyte cell lines may not demonstrate the abnormal cell line. Early diagnosis is of paramount importance, since early physical, occupational, and speech/language therapy can greatly improve the developmental outcome of these patients. We report on a fourth patient with trisomy 7 mosaicism in whom early diagnosis and developmental therapy contributed to an improved developmental outcome when compared with patients in previous reports. Early intervention can greatly benefit patients with this diagnosis, especially in minimizing the aggressive behavior associated with communication difficulties. Our patient has milder manifestations than the previously reported patients with no seizure activity or asymmetry and fewer cells with trisomy 7.

Adult↗
PubMed1990

Tandem duplication of proximal 5q.

A 3.5-year-old boy with a de novo tandem duplication 5q11.1----5q15 is reported. Since the physical stigmata of seven liveborn cases with 5q proximal duplications are variable and inconspicuous, a recognizable syndrome could not be delineated. On the contrary, the associated developmental delay seems to be severe in duplications extending into 5q22 and mild in duplications 5q11----q13.

Child, Preschool↗
PubMed2002

The relationship between predisposing factors, premorbid function and symptom dimensions in psychosis: an integrated approach.

BACKGROUND: Increasing evidence suggests psychosis may be more meaningfully viewed in dimensional terms rather than as discrete categorical states and that specific symptom clusters may be identified. If so, particular risk factors and premorbid factors may predict these symptom clusters. AIMS: (i) To explore, using principal component analysis, whether specific factors for psychotic symptoms can be isolated. (ii) To establish the predictors of the different symptom factors using multiple regression techniques. METHOD: One hundred and eighty-nine inpatients with psychotic illness were recruited and information on family history, premorbid factors and current symptoms obtained from them and their mothers. RESULTS: Seven distinct symptom components were identified. Regression analysis failed to identify any developmental predictors of depression or mania. Delusions/hallucinations were predicted by a family history of schizophrenia and by poor school functioning in spite of normal premorbid IQ (F = 6.5; P < 0.001); negative symptoms by early onset of illness, developmental delay and a family history of psychosis (F = 4.1; P = 0.04). Interestingly disorganisation was predicted by the combination of family history of bipolar disorder and low premorbid IQ (F = 4.9; P = 0.003), and paranoia by obstetric complications (OCs) and poor school functioning (F = 4.2; P = 0.01). CONCLUSION: Delusions and hallucinations, negative symptoms and paranoia all appeared to have a developmental origin though they were associated with different childhood problems. On the other hand, neither mania nor depression was associated with childhood dysfunction. Our most striking finding was that disorganisation appeared to arise when a familial predisposition to mania was compounded by low premorbid IQ.

Adolescent↗