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PubMed1993

Short-term response to dietary therapy in molybdenum cofactor deficiency.

Molybdenum cofactor deficiency was diagnosed in a 3-month-old girl who presented with microcephaly, developmental delay, severe irritability, and lactic acidosis. Dietary methionine restriction, with cysteine supplementation, was associated with moderate short-term clinical improvement, including a resumption in predicted head growth, modest developmental progress, and a reduction in irritability. Clinical relapse was associated with noncompliance of dietary therapy 2 months later. Urinary sulfite levels measured by commercial dipsticks were useful in following therapy. Molybdenum cofactor deficiency is probably frequently underdiagnosed due to the lack of specific clinical or laboratory features. Screening of infants at risk for the presence of urinary sulfites or serum hypouricemia, or both, is both rapid and inexpensive.

Acidosis, Lactic↗
PubMed2026

Evolutionary conservation of heat shock proteins in Blattodea and their roles in wing morphogenesis and ovarian development of Blattella germanica.

Heat shock proteins (Hsps) are essential molecular chaperones for protein homeostasis and stress responses. However, the Hsp repertoires and functions in Blattodea remain underexplored. Our genome-scale survey of nine Blattodea species revealed 37-46 conserved Hsp90, Hsp70, and DNAJ (Hsp40) genes, with DNAJ the most abundant and Hsp90 the least. Phylogenetic analysis confirmed the evolutionary conservation of three Hsp90, seven Hsp70, and 29 DNAJ subclades in Blattodea. Selection pressure analysis revealed predominant purifying selection (dN/dS ≪ 1) across lineages, strongest in DNAJ and highest in Hsp90 conservation. In Blattella germanica, expression of six representative BgHsp genes progressively increased during development, peaking in fifth-instar nymphs. Tissue expression profiling revealed that BgHspA1-2/3/4 were predominantly expressed in legs, BgDNAJB5 and BgHsp90AB1-2 were enriched in the fat body, and BgHsp90AB1 was highly expressed in the head. dsRNA injection targeting conserved Hsp gene regions achieved 61.9-94.1% knockdown of all six target genes. RNAi knockdown of six BgHsp genes disrupted wing morphogenesis, causing distinct phenotypes: wing whitening (56.7%, dsBgHspA1-4), unequal length (66.7%, dsBgHspA1-3; 76.7%, dsBgDNAJB5), and wing wrinkling (70%, dsBgHspA1-2; 63.3%, dsBgHsp90AB1; 76.7%, dsBgHsp90AB1-2). During ovarian formation, the developmental delay was most severe in the dsBgHsp90AB1 group, moderate in the dsBgHsp90AB1-2 and dsBgHspA1-2/3/4 groups, and weakest in the dsBgDNAJB5 group. Besides, knockdown significantly downregulated key developmental genes (apterous-a, nubbin, scalloped, ultrabithorax, wingless, and vitellogenin). These findings provide a reference for understanding the evolutionary patterns of Hsps in Blattodea, and offer mechanistic insights into the developmental regulation mediated by Hsps in this important public-health pest.

Animals↗
PubMed1990

Results of surgical treatment of neonatal necrotizing enterocolitis.

In 6 years, 74 neonates were treated for necrotizing enterocolitis, 40 (54 per cent) of whom underwent operation. The early postoperative mortality rate was 23 per cent and there was one late death. Of the 30 postoperative survivors, two have short bowel syndrome, two have chronic respiratory disease, two are partially sighted, and five (17 per cent) have severe developmental delay. Only 15 (50 per cent) survivors enjoy good health.

Abnormalities, Multiple↗
PubMed2000

Early diagnosis of schizophrenia--the first step towards secondary prevention.

OBJECTIVE: To review current knowledge of risk factors associated with schizophrenia and the development of diagnostic markers aimed at the delay or attenuation of the first psychotic episode. METHOD: Studies relating to the development of disease and the risk factors that could inform predictive markers are reviewed, including high-risk studies, birth-cohort studies, and retrospective and follow-back studies. RESULTS: Future schizophrenic patients present with delayed developmental milestones, speech and behavioural difficulties, and lower IQ scores than non-cases. CONCLUSION: Results are consistent with the notion that schizophrenia is a developmental disease and that such antecedents are present; further research is required to improve the specificity of diagnostic markers and predictive power before these can be used to prevent or delay psychotic episodes of schizophrenia.

Humans↗
PubMed2003

Toward an understanding of developmental coordination disorder: terminological and diagnostic issues.

Awareness of children who experience unexpected difficulty in the acquisition of motor skills has increased dramatically over the last twenty years. Although the positing of a distinct syndrome has proven seminal in provoking further questions, several basic terminological problems remain unresolved. In this paper, we conduct a component analysis of the three, principal competing labels for this disorder, two of them being elements derived from systematic diagnostic frameworks. Our preference for the DSM IV term Developmental Coordination Disorder (DCD) is stated and justified. Problems in diagnosis are discussed, especially in relation to the etiology-dominated medical model. We argue that an attempt should be made to identify (pathological) positive signs that can reliably be detected rather than relying entirely on normative evidence of a lack of skills exhibited by other children of the same age. The high degree of overlap between DCD and other developmental disorders suggests that DCD might not constitute a distinct syndrome. In this context, we emphasize the need to determine whether incoordination takes a different form when it occurs alone or whether it is combined with general developmental delay or with other specific disorders in children of normal intelligence.

Child↗
PubMed1988

A comparison of motor performance of preschoolers enrolled in mental health programs and non-mental health programs.

Recognizing that the etiologies of some major mental illnesses may be in the physical domain, this study described and compared the motor performance of 27 preschool children enrolled in mental health programs with 27 children enrolled in Project Head Start, a non-mental health program. The two groups were matched for age, race, and sex. The Gross and Fine Motor scales of the Peabody Developmental Motor Scales were administered to all subjects. On both measures the children enrolled in mental health programs scored significantly lower than the children enrolled in Project Head Start. In addition their scores were more variable. The results of this study support other findings suggesting that developmental delays may be characteristic of children with emotional disturbances.

Child, Preschool↗
PubMed1994

Very low birth weight infants (< 1501 g) at double risk.

This study examines the outcome at ages 2 and 3 years of very-low-birth-weight infants (N = 105) at double risk. Double risk was defined with reference to Fagan's model of intelligence. According to this model, cognitive-processing ability and culturally provided information produce knowledge. The Fagan Test of Infant Intelligence was used to assess processing ability, whereas parental socioeconomic status (SES) was used as an indicator of available information. Knowledge was measured by means of well-known psychometric tests of young children's abilities. Children at double risk were consistently delayed with respect to knowledge of intellectual skills and language as compared with children who were not at double risk. The data suggest that the assessment of processing ability and parental SES may provide a better foundation for detecting developmental delay than does a medical main-effect model.

Brain Damage, Chronic↗
PubMed1989

[Nanism with short limbs, dysmorphism, renal dysplasia, growth hormone deficiency with pituitary hypoplasia and psychomotor delay: a new syndrome?].

The authors present the case of a male infant affected with short limbed dwarfism already detected in utero by ultrasound. In addition, facial dysmorphism, bilateral hypoplasia and dysplasia of the kidneys with altered renal function, hypotonia and non-evolutive developmental delay are noted. Endocrine tests show a severe and isolated growth hormone deficiency. Metabolic investigations are negative, including peroxisomal functions. Prometaphase chromosomes are normal. Bone x-rays reveal generalized osteoporosis with absence of post-natal osseous maturation and the presence of wormian bones. Major pituitary hypoplasia is demonstrated by nuclear magnetic resonance. The present observation is compared to the case reported by Stratton & Parker (Am. J. Med. Genet., 1989, 32, 169-173). Available data do not allow either to affirm or to exclude the identity of the syndromes presented by these 2 isolated cases.

Abnormalities, Multiple↗
PubMed2004

Early indicators of autism spectrum disorders in the second year of life.

Three groups of 18 children were selected for this study, one group with autism spectrum disorders (ASD), one group with developmental delays in which ASD was ruled out (DD), and one group with typical development (TD), from a pool of 3026 children who were screened with the Communication and Symbolic Behavior Scales Developmental Profile (CSBS DP, Wetherby & Prizant. 2002) Infant-Toddler Checklist under 24 months of age. The CSBS DP Behavior Sample was videotaped on selected children as a second-level evaluation during the second year of life. The Infant-Toddler Checklist had a sensitivity and specificity of 88.9% for this sample of children. Significant group differences were found on the Infant-Toddler Checklist and the Behavior Sample, however, these differences did not distinguish children with ASD and DD with high accuracy. The videotapes of the Behavior Sample were reanalyzed to identify red flags of ASD. Nine red flags differentiated children in the ASD group from both the DD and TD groups and four red flags differentiated children in the ASD Group from the TD group but not the DD group. These 13 red flags were found to discriminate the three groups with a correct classification rate of 94.4%.

Age Factors↗
PubMed2006

T(2)-weighted microMRI and evoked potential of the visual system measurements during the development of hypomyelinated transgenic mice.

Our objective was to follow the course of a dysmyelinating disease followed by partial recovery in transgenic mice using non-invasive high-resolution (117 x 117 x 70 microm) magnetic resonance (microMRI) and evoked potential of the visual system (VEP) techniques. We used JOE (for J37 golli overexpressing) transgenic mice engineered to overexpress golli J37, a product of the Golli-mbp gene complex, specifically in oligodendrocytes. Individual JOE transgenics and their unaffected siblings were followed from 21 until 75-days-old using non-invasive in vivo VEPs and 3D T2-weighted microMRI on an 11.7 T scanner, performing what we believe is the first longitudinal study of its kind. The microMRI data indicated clear, global hypomyelination during the period of peak myelination (21-42 days), which was partially corrected at later ages (>60 days) in the JOE mice compared to controls. These microMRI data correlated well with [Campagnoni AT (1995) "Molecular biology of myelination". In: Ransom B, Kettenmann H (eds) Neuroglia--a Treatise. Oxford University Press, London, pp 555-570] myelin staining, [Campagnoni AT, Macklin WB (1988) Cellular and molecular aspects of myelin protein gene-expression. Mol Neurobiol 2:41-89] a transient intention tremor during the peak period of myelination, which abated at later ages, and [Lees MB, Brostoff SW (1984) Proteins in myelin. In: Morell (ed) Myelin. Plenum Press, New York and London, pp 197-224] VEPs which all indicated a significant delay of CNS myelin development and persistent hypomyelination in JOE mice. Overall these non-invasive techniques are capable of spatially resolving the increase in myelination in the normally developing and developmentally delayed mouse brain.

Animals↗
PubMed1993

Ontogeny of the proenkephalin system in the rat corpus striatum: its relationship to dopaminergic innervation and transient compartmental expression.

The earliest detection of the proenkephalin gene was on embryonic day 16 in neuronal cell bodies in the ventrolateral portion of the caudal neostriatum. This expression was identified by both immunocytochemistry for synenkephalin, the nonopioid N-terminus of proenkephalin (1-70), and preproenkephalin in situ hybridization with a complementary DNA probe. Two developmental gradients of preproenkephalin expression and synenkephalin immunoreactivity were observed: (i) a ventrolateral to dorsomedial and caudal to rostral gradient in the rostral caudate-putamen; and (ii) a ventromedial to dorsolateral and rostral to caudal gradient in the caudal caudate-putamen. Ventrolateral to dorsomedial and caudal to rostral developmental gradients of synenkephalin fiber immunoreactivity were also identified in the globus pallidus. Methionine enkephalin immunoreactivity was not consistently detectable until postnatal day 10 and 15 in the rostral and caudal globus pallidus, respectively. A transient patchy distribution of increased preproenkephalin expression from embryonic day 20 through postnatal day 5 occurred. These patches and a subcallosal streak were found to overlap partially with areas of increased tyrosine hydroxylase immunoreactivity by adjacent section analyses. The earliest detection of tyrosine hydroxylase immunoreactivity was found to coincide with that of proenkephalin on embryonic day 16, but in differing regions of the corpus striatum. Tyrosine hydroxylase immunoreactivity in the rostral caudate-putamen preceded, while in the caudal caudate-putamen it followed first expression of the proenkephalin gene. Early proenkephalin expression, by both synenkephalin immunocytochemistry and preproenkephalin in situ hybridization, was also detected in the central nucleus of the amygdala on embryonic day 16 immediately ventral to the area of expression in the caudate-putamen. Preproenkephalin expression in the olfactory tubercle and nucleus accumbens first appeared on embryonic day 20 and expression proceeded in a lateral to dorsomedial gradient continuous with the ventral part of the rostral caudal-putamen. Relatively late detection of methionine enkephalin immunoreactivity in comparison to synenkephalin possibly indicates a developmental delay in the complete enzymatic processing of the proenkephalin precursor. Differing gradients in the ontogeny of preproenkephalin expression in the rostral vs the caudal caudate-putamen suggest possible anatomical and developmental differences of these two regions. Also, transient compartmentalization of preproenkephalin expression and differences in dopaminergic innervation as detected by tyrosine hydroxylase immunoreactivity were further support for the existence of two subsets of proenkephalinergic neurons in the caudate-putamen. Contemporaneous development of preproenkephalin expression and synenkephalin immunoreactivity in the central nucleus of the amygdala with the ventral part of the caudal caudate-putamen also suggested developmental homology.(ABSTRACT TRUNCATED AT 400 WORDS)

Aging↗
PubMed1999

Lipoid pneumonia: a silent complication of mineral oil aspiration.

INTRODUCTION: Chronic constipation is a common symptom in pediatrics, and physicians often use mineral oil to treat chronic constipation in children. Mineral oil, a hydrocarbon, may not elicit a normal protective cough reflex and may impair mucociliary transport. These effects can increase the likelihood of its aspiration and subsequent impaired clearance from the respiratory tract. We report a case of a child with neurodevelopmental delay with chronic constipation and a history of chronic mineral oil ingestion presenting as asymptomatic exogenous lipoid pneumonia (ELP). CASE HISTORY: A 6-year-old white boy with a history of developmental delay was found to have an infiltrate in his right upper lobe on a chest radiograph obtained during evaluation for thoracic scoliosis. The patient had a long history of constipation with daily use of mineral oil. He was fed by mouth and had occasional episodes of coughing and choking during feeding. He was asymptomatic at presentation and physical examination was unremarkable. The patient was advised to stop administration of the mineral oil and was treated empirically with antibiotics during a 3-month period. At follow-up examination the patient continued to be asymptomatic, with the radiologic persistence of the infiltrate. Diagnosis of lipoid pneumonia was made by diagnostic bronchoscopy with bronchoalveolar lavage (BAL). The exogenous origin of the lipid in the BAL fluid was confirmed by gas chromatography/mass spectrometry. DISCUSSION: The clinical presentation of ELP is nonspecific and ranges from the totally asymptomatic patient with incidental radiologic finding, like our patient, to the patient with acute or chronic symptoms attributable to pneumonia, pulmonary fibrosis, or cor pulmonale. Bronchoscopy with BAL can be successful in establishing the diagnosis of ELP by demonstration of a high lipid-laden macrophage index. Treatment of ELP in children is generally supportive, with the symptoms and roentgenographic abnormalities resolving within months after stopping the use of mineral oil. CONCLUSION: Lipoid pneumonia as a result of mineral oil aspiration still occurs in the pediatric population. It can mimic other diseases because of its nonspecific clinical presentation and radiographic signs. In patients with swallowing dysfunction and pneumonia, a history of mineral oil use should be obtained and a diagnosis of ELP should be considered in the differential diagnoses if mineral oil use has occurred. Our case points to the need for increased awareness by the general pediatricians of the potential hazards of mineral oil use for chronic constipation.

Bronchoalveolar Lavage↗
PubMed1985

Seizures in children with meningomyelocele.

The charts of 111 children with meningomyelocele were reviewed. Ninety-eight had shunted hydrocephalus. Twenty-five of 111 children (24 of 98 children with shunts) had seizures. Age at onset and type of seizure varied. Brain malformation (other than Arnold-Chiari), shunt infection, and perhaps number of shunt revisions were important risk factors in seizure development. The children with seizures were more likely to be developmentally delayed.

Anticonvulsants↗
PubMed1983

An educational/remedial approach for language delayed children using children's storybooks.

This study explores the use of a modified cloze procedure in assessing a child's oral comprehension. It encourages the speech pathologist and special educator to use this procedure in a diagnostic and therapeutic context with children who are developmentally delayed. Its routine use broadens the role definition of the educator as a skilled evaluator and trainer in grammatical decoding and subsequent vocabulary development.

Child↗
PubMed1996

Clinical features of developmental disability associated with cerebellar hypoplasia.

Sporadic nonsyndromic cerebellar hypoplasia is a radiological diagnosis with clinical features and a relation with developmental disability that are presently not known. Through a retrospective review of a comprehensive standardized computerized database containing more than 2,500 patients examined consecutively by a pediatric neurologist, 11 with nonfamilial, nonsyndromic cerebellar hypoplasia on neuroimaging (CT and/or MRI) were identified. With the exception of two patients, all had been originally referred during infancy or the preschool years for assessment of a developmental disability. All 11 had "cerebellar" findings on initial examination and five were microcephalic; three others were below the 10th percentile. All exhibited developmental disability, commonly of mild to moderate degree. Motor involvement predominated, often involving fine motor skills more than gross motor functions. Imaging consistently disclosed vermis hypoplasia with additional supratentorial cerebral dysgenesis in one child and cerebellar hemispheric hypoplasia in another. Cerebellar hypoplasia is a developmental anomaly that appears to be either etiologically related to, or a marker for, developmental disability, thus confirming the intact cerebellum's integral role in normal psychomotor development. This series suggests that cerebellar hypoplasia should be considered in the young child presenting with developmental delay with prominent motor involvement, together with cerebellar signs and/or microcephaly.

Cerebellar Diseases↗
PubMed2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

ABCA13 encodes ATP-binding cassette subfamily A member 13, one of the largest members of the ABC transporter family. Rare ABCA13 variants have been reported in neuropsychiatric and neurodevelopmental phenotypes, including schizophrenia, bipolar disorder, autism spectrum disorder, intellectual disability, and developmental delay; however, the mode of inheritance remains uncertain, and most published cases have focused on heterozygous variants in the context of a possible dominant or susceptibility model. We report a 5-year-old boy with neurodevelopmental delay, skeletal foot deformities, nonspecific dysmorphic features, convergent strabismus, and behavioral abnormalities. Initial genome sequencing analysis was nondiagnostic. Reanalysis after 6 months identified two rare predicted loss-of-function variants in ABCA13 in trans: c.2510del, p.(Leu837TyrfsTer21), a frameshift variant, and c.12064C>T, p.(Arg4022Ter), a nonsense variant previously reported in a patient with unexplained intellectual disability. The identification of compound heterozygous predicted loss-of-function variants supports the possibility that biallelic disruption of ABCA13 may contribute to neurodevelopmental disease, whereas previously reported heterozygous variants may represent incompletely penetrant risk alleles, susceptibility factors, or candidate findings rather than fully penetrant dominant causes. This case expands the emerging clinical and genetic spectrum associated with ABCA13 and supports further evaluation of a recessive model in patients with intellectual disability and neurodevelopmental delay.

ABCA13↗
PubMedDate not supplied

Prevalence of the epilepsies in children and adolescents.

The prevalence of epilepsy in children and adolescents from birth through age 19 years was determined for residents of two counties in central Oklahoma. Cases, identified from hospitals, clinics, private physicians' offices, and EEG laboratory and emergency room records, numbered 1,159, yielding a prevalence rate of 4.71 per 1,000. The prevalence was highest in children aged 1-4 years. Overall, males had a slightly higher prevalence rate than females (M:F = 1.1). However, the male/female ratio varied by age, with the group aged less than 1 year having the highest ratio (M:F = 1.5), and by type of epilepsy, with males having higher rates of simple partial epilepsy (M:F = 1.8) and infantile spasms (M:F = 1.5). The prevalence of epilepsy was higher in blacks than in whites. Differences in prevalence by race were confined primarily to generalized epilepsies (B:W = 1.8). The most common types of epilepsy were tonic, clonic, and tonic-clonic (1.14 per 1,000), complex partial (0.39 per 1,000), and partial seizures secondarily generalized (0.33 per 1,000). Approximately 70% of cases were considered idiopathic. Among the presumed causes were perinatal factors (7%), trauma (4%), central nervous system (CNS) infection (3%), and congenital/developmental factors (3). Sixty-five percent of cases had at least one additional medical problem. The most common types of comorbidity were motor handicap (13%) and developmental delay (24%).

Adolescent↗