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PubMed1996

Skeletal and cardiac malformations with thrombocytopenia: a new syndrome?

We describe a female patient with multiple anomalies suggestive of a new syndrome. Manifestations include: VSD and ASD, mild developmental delay, conductive hearing loss, minor facial anomalies, thrombocytopenia, and radiological findings (including carpal fusion). Some of these manifestations may be present in the Keutel syndrome, IVIC syndrome, and the 10qter deletion syndrome. However, none of these syndromes can explain the spectrum of anomalies seen in our patient.

Abnormalities, Multiple↗
PubMed1989

The health of children adopted from India.

Little information is presently available about health issues associated with intercountry adoptions. This research starts to fill this gap by surveying the health problems of 200 children from India adopted by 166 Oregon families during the period 1978-1987. Parents' responses to a mail questionnaire revealed that at least 37.5% of the children were premature. The children's birth weights and birth lengths were 3 to 4 SDs below WHO norms, and almost all the children's weights and heights by age, at time of arrival in the United States were below WHO's 50th percentile value. Feeding problems were frequent (35.0%), as were salmonella (30.5%), malnutrition (22.0%), anemia (18.5%), and developmental delays (18.0%). Many children were not tested for communicable diseases endemic to India such as hepatitis B, tuberculosis and salmonellosis. Many diseases and health problems were unanticipated by parents on the basis of medical reports received from India, and parents expressed a need for greater support and better resources in dealing with these health problems.

Adolescent↗
PubMed2004

Congenital disorder of glycosylation (CDG) type Ie. A new patient.

CDG Ie is caused by a deficiency of dolichol-phosphate-mannose synthase 1 (DPM1), an enzyme involved in N-glycan assembly in the endoplasmic reticulum. Three proteins are known to be part of the synthase complex: DPM 1, DPM2 and DPM3. Only mutations in DPM1, the catalytic subunit, have been described in three families. One was homozygous for the c274C>G (R92G) mutation in DPM1 and two others were compound heterozygous for R92G and a c628delC deletion or a c331-343del13, respectively. Clinical features were a severe infantile encephalopathy, early intractable seizures, acquired microcephaly, and some dysmorphic features. We report a patient with milder symptoms: microcephaly, dysmorphic features, developmental delay, optic atrophy, and cerebellar dysfunction without cerebellar atrophy. The patient is homozygous for a new mutation in exon 9 of the DPM1 gene (c742T>C (S248P)). Our findings extend the spectrum of CDG Ie.

Brain↗
PubMedDate not supplied

Assessing the written information given to families prior to their attendance at a child development centre.

This paper describes an analysis of the written information given to parents of pre-school children with developmental delay prior to their attendance at a Child Development Centre. Texts were analysed for their readability and human interest, and the usefulness of the information was assessed through consultation with parent consumers. The discussion of the results includes suggestions for staff who are involved in the development of client leaflets and booklets.

Child Day Care Centers↗
PubMed2004

Retinoblastoma, pinealoma, and mild overgrowth in a boy with a deletion of RB1 and neighbor genes on chromosome 13q14.

We report on a 10-year-old boy with a normal karyotype and a chromosome 13q14 deletion of the retinoblastoma gene (RB1) by fluorescence in situ hybridization (FISH). He showed subtle signs of overgrowth, including macrocephaly, hepatomegaly, and inguinal hernia. The boy also had cryptorchism and mild developmental delay. In his first months of life, variant Wiedemann-Beckwith syndrome was tentatively suspected and he was included in a careful tumor prevention program. At the age of 11 months, bifocal retinoblastoma of the left eye was diagnosed. Pinealoma was suspected at the age of 19 months and was removed by neurosurgery at the age of 29 months. At 4 years and 4 months, the deletion of the RB1 gene was suspected on clinical grounds and was diagnosed by FISH and molecular studies. At that time, he was a near-normal healthy playful kindergarten child, height 107 cm (-0.3 SD), OFC 52.5 cm (+0.8 SD), developmental age 3-3.5 years. The combination of retinoblastoma, pinealoma, and deletion of the RB1 gene diagnosed by FISH has not been reported previously. The deletion spans at least 370-420 kb in size and is predicted to include proximal and distal neighbor genes. This report may assist in establishing the clinical signs of the contiguous gene syndrome at the RB1 locus on 13q14.

Brain Neoplasms↗
PubMed2006

Medical applications of array CGH and the transformation of clinical cytogenetics.

Microarray-based comparative genomic hybridization (array CGH) merges molecular diagnostics with traditional chromosome analysis and is transforming the field of cytogenetics. Prospective studies of individuals with developmental delay and dysmorphic features have demonstrated that array CGH has the ability to detect any genomic imbalance including deletions, duplications, aneuploidies and amplifications. Detection rates for chromosome abnormalities with array CGH range from 5-17% in individuals with normal results from prior routine cytogenetic testing. In addition, copy number variants (CNVs) were identified in all studies. These CNVs may include large-scale variation and can confound the diagnostic interpretations. Although cytogeneticists will require additional training and laboratories must become appropriately equipped, array CGH holds the promise of being the initial diagnostic tool in the identification of visible and submicroscopic chromosome abnormalities in mental retardation and other developmental disabilities.

Chromosome Aberrations↗
PubMed2003

Septo-optic dysplasia: a literature review.

BACKGROUND: Septo-optic dysplasia (SOD) is a rare disorder characterized by optic nerve hypoplasia with any combination of absent septum pellucidum and/or pituitary dysfunction. SOD may manifest as strabismus, nystagmus, decreased visual acuity, or visual impairment; as an endocrine dysfunction in isolation; or in addition to mental retardation, cerebral palsy, developmental delay, or delayed growth. METHOD: This article reviews the presenting signs and symptoms of SOD, optic nerve hypoplasia, consequences of an absent septum pellucidum, endocrine findings associated with SOD, SOD diagnosis determination, syndromes associated with SOD, and optometry's role in caring for these patients. It also examines two cases that demonstrate the variety and severity of visual and physical impairments associated with SOD. RESULTS: SOD has a multi-factorial etiology, including insult during pregnancy (e.g., viral infections, gestational diabetes); vascular disruption; or a genetic mutation. Children with SOD may manifest a variety of visual and/or physical symptoms that range from mild to severe. CONCLUSIONS: The associated vision, developmental, neurologic, and endocrine disturbances require early diagnosis and management. Optometrists need to be aware of optic nerve hypoplasia (ONH) and consider this diagnosis in patients with visual acuity loss. A comprehensive eye examination and visual-field assessment should be completed in addition to appropriate referrals for endocrine, developmental, and/or cognitive anomalies.

Adolescent↗
PubMed2003

Delayed onset of vocal cord paralysis after explantation of a vagus nerve stimulator in a child.

INTRODUCTION: Vagus nerve stimulation for the management of intractable seizure disorders is increasingly being used, especially in younger children. Although complications such as infection or vocal cord paralysis are uncommon, some may be unreported. CLINICAL PRESENTATION: A 3.5-year-old boy with intractable complex partial and generalized seizures had a left vagus nerve stimulator (VNS) successfully implanted. Two weeks later, the cervical incision showed signs of infection, antibiotics were started, and the VNS generator and leads were explanted. Three weeks later the child's mother noted a change in the voice of her son, as well as increased coughing and gagging. Flexible laryngoscopy identified a left vocal cord paralysis, which eventually resolved after 6 months. CONCLUSION: Infection requiring explantation of a VNS is uncommon. The risk is higher in younger children, especially in those who are developmentally delayed. These children may continuously drool, with saliva or food soiling the fresh incision, or even pick at the incision to the point of twisting or even pulling out the electrodes. Less common is a vocal cord paralysis, especially occurring in a delayed fashion.

Child, Preschool↗
PubMed1992

Peters' anomaly and associated congenital malformations.

We reviewed the clinical findings in 29 patients with Peters' anomaly. There was developmental delay in 15 patients, congenital heart disease in eight patients, external ear abnormalities in five patients, structural defects of the central nervous system in four patients, genitourinary malformations in four patients, cleft lip/palate in three patients, hearing loss in three patients, spinal defects in two patients, and single cases of other less common defects. One patient had fetal alcohol syndrome; one, Pfeiffer's syndrome; and one, short stature, ulnar hypoplasia, and joint laxity. Colobomatous microphthalmia was present in seven patients, and persistent hyperplastic primary vitreous in three patients. Ten patients developed glaucoma, and three had retinal detachment unrelated to ocular surgery. Peters' anomaly may be due to a developmental field defect, or the complex ocular and systemic malformations may be the result of a contiguous gene syndrome or of a defective homeotic gene controlling the development of the eye and other body structures.

Abnormalities, Multiple↗
PubMed2005

Three patients with terminal deletions within the subtelomeric region of chromosome 9q.

We report on three male infants with de novo terminal deletions of chromosome 9q34.3. The clinical features are compared to the nine cases described in the literature. Case 1 and 3 were ascertained following the use of subtelomeric FISH to screen for a chromosomal anomaly, case 2 was confirmed by FISH probe following detection of a 9q deletion on standard karyotyping. Deletions in this region result in severe developmental delay, a distinct facial phenotype, cardiac anomalies, obesity, and respiratory failure, which may result in premature death. The delineation of the 9q deletion phenotype will aid diagnosis and genetic counseling as subtelomere FISH screening becomes more widely available.

Abnormalities, Multiple↗
PubMed2026

A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family.

BACKGROUND: Intellectual disabilities (IDs) are part of neurodevelopmental disorders (NDDs) and are genetically heterogeneous conditions characterized by impairments in cognition, learning, and adaptive functioning. Despite advances in gene discovery, many individuals, particularly those from understudied populations, remain without a molecular diagnosis. Recent reports implicate CCDC82 (HGNC: 26282) as an autosomal recessive ID gene, although the phenotypic spectrum and biological context remain incompletely defined. METHODS: Exome sequencing (ES) was performed in a consanguineous Pakistani family (PKMR06A) with four affected individuals presenting with moderate to severe ID. Variant segregation was confirmed by Sanger sequencing. In silico analyses, including pathogenicity prediction, protein structural modeling, and domain intolerance assessment, were used to evaluate the functional consequences of the identified variant. Spatiotemporal gene expression patterns were examined using bulk and single-cell human brain transcriptomic datasets. RESULTS: Clinically, affected individuals of family PKMR06A presented with early childhood global developmental delay, speech delay, hypotonia, gait abnormalities, spasticity, and mild facial dysmorphism. Genetic screening revealed a recurrent rare homozygous frameshift variant in CCDC82 (NM_024725.4): c.373del; p.(Asp125Ilefs*6), segregating with disease in all available affected individuals of the family. The identified c.373del variant was absent from the gnomAD database and was classified as pathogenic (PVS1, PM2, and PP1) based on ACMG/AMP criteria. The c.373del variant is predicted to introduce a premature termination codon, p.(Asp125Ilefs*6), leading to deletion of essential coiled-coil domains from the encoded protein, supporting a loss-of-function mechanism. In silico, transcriptomic analyses demonstrated preferential CCDC82 expression during prenatal human brain development, providing developmental context for the neurodevelopmental phenotype associated with the identified truncating variant. CONCLUSIONS: This study expands the mutational landscape of CCDC82 and provides additional clinical and molecular evidence supporting its role in autosomal recessive NDD. The findings reinforce the importance of CCDC82 in human neurodevelopment and highlight the value of genomic investigation in underrepresented populations.

Autosomal recessive↗
PubMed2005

Auditory brainstem responses in young males with Fragile X syndrome.

Fragile X syndrome (FXS) is the most common inherited cause of mental retardation resulting in developmental delays in males. Atypical outer ear morphology is characteristic of FXS and may serve as a marker for abnormal auditory function. Despite this abnormality, studies of the hearing of young males with FXS are generally lacking. A few studies have suggested that a significant proportion of individuals with FXS demonstrate prolonged auditory brainstem response (ABR) latencies. The purpose of this study was to determine whether young males with FXS display atypical auditory brainstem function compared to typically developing males when conductive and sensorineural hearing loss are ruled out as possible contributors to atypical findings. Participants were 23 males with FXS, 21 typically developing males who were matched for developmental age, and 17 typically developing males who were matched for chronological age. A battery of tests to assess peripheral hearing, cochlear function, and auditory pathway integrity through the level of the brainstem was completed. Males with FXS were similar to typically developing males who were matched for developmental age level or chronological age level on all measures. They had normal hearing sensitivity and middle ear function and scored similar to the typically developing children on the measures of auditory brainstem pathway integrity. In summary, ABRs in young males with FXS were within normal limits.

Acoustic Impedance Tests↗
PubMed1987

Neurological, electrophysiological and MRI abnormalities in infants with extensive cystic leukomalacia.

Twenty infants, diagnosed by cranial ultrasound as having extensive cystic leukomalacia, had visual evoked responses (VER) and electroencephalograms (EEG) in the neonatal period and MRI scans later in infancy. The early ultrasound findings and results from the electrophysiological tests were correlated with later MRI findings and functional abilities. In infants with periventricular leukomalacia (PVL), the cysts were usually no longer visible by ultrasonography, beyond 40 weeks postmenstrual age (PMA), but later MRI scans showed a consistent pattern of delayed myelination around the irregularly dilated occipital horns of the lateral ventricles. VER's were present in the neonatal period and vision was maintained, although all infants developed a marked squint. EEG's were either normal or abnormal initially, but improvement was noted within several weeks. In those with subcortical or mixed lesions, cysts were noted to persist beyond 40 weeks PMA. Later MRI scans showed very poor myelination, with poor progress on subsequent scans and cortical atrophy. VER's were absent and all infants later became cortically blind. EEG's were severely abnormal and recovery was very poor. The infants with PVL developed spastic diplegia with moderate developmental delay, while those with mixed or subcortical lesions developed quadriplegia with severe mental retardation. An integrated approach, consisting of ultrasound imaging and electrophysiological recordings in the neonatal period and MRI imaging later in infancy, may provide a more reliable prediction of the pattern of later deficits.

Brain↗
PubMed1993

Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children.

Cardio-facio-cutaneous (CFC) syndrome consists of heart defects, a characteristic facial appearance, ectodermal abnormalities, growth retardation and developmental delay. The authors report two children with this condition, drawing particular attention to the neurological manifestations. The neurological features are neuro-opthalmological findings such as strabismus, ptosis and nystagmus, cortical atrophy, ventriculomegaly, mental retardation, seizures and hypotonia. These manifestations may allow differentiation of CFC from Noonan syndrome, which shares many of the physical features, but not these neurological features.

Abnormalities, Multiple↗
PubMed1985

Denver developmental screening test and preterm infants.

The results of Denver developmental screening test and Griffiths mental development scales examination performed on 198 preterm children during the first three years of life and compared. Using real age the former identified children with developmental delay, but labelled up to 42% of babies as having questionable or abnormal development. Using corrected age very few children showed less than normal development, and in the first year those whose Griffiths scales results showed delay were often assessed as normal by the Denver test. In view of its less satisfactory sensitivity and selectivity it is suggested that both age lines should be drawn when using the Denver test with preterm children so that undue anxiety can be allayed while appropriate action is taken to ensure adequate follow up.

Age Factors↗
PubMed2001

[Administration of glucocorticosteroids to premature infants: increasing evidence of adverse effects].

Neonatal glucocorticosteroid therapy is increasingly being used for the prevention of chronic lung disease in very premature infants. In the short term this therapy is usually successful. There is, however, increasing evidence for long-term adverse effects. In particular there seems to be an increased chance of abnormal brain development, which later results in locomotory dysfunction, developmental delay and cerebral palsy. From experimental studies there are indications that cardiovascular and immunological complications may occur during adult life. Long-term follow-up of neonates treated with glucocorticosteroids seems warranted so that adverse effects that may occur later can be detected and where possible treated. Moreover, the development of alternative treatments should be considered such as the use of less potent glucocorticosteroids.

Adult↗
PubMed2005

Tetrasomy 9q in an infant with cleft palate and multiple anomalies.

We report a patient with partial tetrasomy 9q resulting from a de novo triplication of 9q13q22.1. The clinical features, including microcephaly, beaked nose, short palpebral fissures, camptodactyly, joint contractures, and moderate developmental delay were similar to trisomy 9q, although our patient also had unique features including cleft palate and several unexplained fractures. The latter could be secondary to abnormal tone and contractures. Although tetrasomy 9p is a well-known entity, our patient, to our knowledge, is the first and only individual reported to have tetrasomy 9q.

Abnormalities, Multiple↗
PubMed1986

Sequelae of acute bacterial meningitis in children treated for seven days.

The sequelae of acute bacterial meningitis in children who were treated with ampicillin or chloramphenicol for seven days during the period January 1979 to June 1983 were assessed prospectively. The 235 patients (117 boys and 118 girls) ranged in age from four days to 18 years (mean 26.4 months). Haemophilus influenzae type b was isolated in 70% of patients, Streptococcus pneumoniae in 20%, and Neisseria meningitidis in 10%. The mortality rate was 6.4%. No relapses occurred. Of the 220 survivors, 171 had neurologic psychometric, audiologic, and ophthalmologic assessments performed for a minimum of 1 year following their illness. One hundred thirty-six (80%) children had no detectable sequelae; 20% had mild to severe handicaps. The frequency of sequelae was greatest among children with S pneumoniae meningitis (57%) and least among children with N meningitidis (0%). The sequelae observed included: sensorineural hearing loss (12.9%), developmental delay (5.3%), speech defect (4.7%), motor defect (3.0%), hydrocephalus (1.7%), and seizure disorder (1%). The frequency of observed sequelae among these patients is similar to that previously reported in children treated for ten to 14 days. Our findings indicate that seven days of intravenous antibiotic therapy is adequate for the treatment of bacterial meningitis in children.

Adolescent↗