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PubMed2003

Bilateral corneal anesthesia associated with diaphragmatic paralysis, ovarian failure, and developmental delay.

PURPOSE: To describe two siblings with bilateral corneal anesthesia associated with multiple systemic abnormalities. DESIGN: Interventional case report. METHODS: A 38-year-old Hispanic woman was seen for bilateral corneal ulcers, exposure keratitis, hemorrhagic retinopathy, and multiple systemic abnormalities. A younger sibling with similar but milder findings was also examined. Medical and genetic evaluation was investigated in these two siblings with bilateral decreased sensation and multiple abnormalities from a consanguineous union. RESULTS: Examination of the patient showed bilateral corneal anesthesia, and multiple systemic abnormalities included diaphragmatic paralysis, ovarian failure, multiple thrombotic cerebrovascular accidents, pedal edema, mandibular hypoplasia, and developmental delay. Milder findings were seen in a sibling. Corneal ulcers were stabilized after treatment that included bandage contact lens, pressure patching, topical antibiotics, and tarsorrhaphy. CONCLUSIONS: The combination of corneal anesthesia and systemic abnormalities, with parental consanguinity, suggests an inherited syndrome.

Abnormalities, Multiple↗
PubMed2001

Current Management of Epilepsy and Pregnancy: Fetal Outcome, Congenital Malformations, and Developmental Delay.

Purpose. Women with epilepsy (WWE) reportedly have increased rates of pregnancy complications and poor fetal outcomes related to both their epilepsy and antiepileptic drugs (AEDs). These results influence decisions about conceiving. Most published studies evaluate WWE treated before 1990. We sought to better define risks to pregnant WWE at a tertiary care center, which used current epilepsy guidelines.Methods. We retrospectively analyzed 100 consecutive pregnancies in WWE from 1990 to 2000. Maternal data: epilepsy syndrome, duration, AEDs used, seizure occurrence and frequency, delivery type and complications. Fetal outcomes: fetal birth weight (FBW), gestational age, incidence of prematurity, major and minor congenital malformations, developmental delay.Results. Maternal factors: 37% generalized and 63% partial epilepsies, 59% seizure-free throughout pregnancy, 30% increased and 22% decreased seizure frequency, 90% used AEDs, 21% required polytherapy, 98% took folate, and 48% with gestational seizures delivered by cesarean section, compared with 18% without seizures (P < 0.01). Fetal outcome: Mean FBW and gestational ages similar regardless of AED usage or exposure to maternal seizures, 3.9% prematurity, no cases of still birth or neonatal hemorrhagic disorder, 1.1% of children exposed to AEDs had major congenital malformations, and 6.2% of offspring had pervasive developmental delay (PDD).Conclusions. All fetal outcomes were similar to outcomes for the general population, with the exception of higher rates of PDD and cesarean section. In our small sample of WWE treated with current epilepsy management, the majority had excellent outcomes. Future large studies must confirm this.

Journal Article↗
PubMed1993

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

Duplications of the proximal long arm of chromosome 15 have been seen in the Prader-Willi syndrome (PWS), and in subjects without the Prader-Willi phenotype but with other clinical features including short stature, diabetes, anal and jejunal atresia, and acanthosis nigricans. The non-PWS subjects all had different phenotypes despite the identical findings on cytogenetic analysis. A normal phenotype has also been observed in patients with similar duplications. We report a further patient with a duplication of 15q11-13 which was detected cytogenetically and confirmed on molecular genetic analysis. She has developmental delay, particularly concerning the acquisition of speech, and an ataxic gait. These are interesting clinical features in view of the association of Angelman syndrome with abnormalities of 15q11-13.

Angelman Syndrome↗
PubMed2006

Early intervention in developmental delay.

OBJECTIVES: To establish the socio-demographic and clinical profile of children attending Early Intervention Program (EIP). METHODS: Retrospective analysis of case records of 100 consecutive children examined from July 2002 to June 2004. Data regarding socio-demographic variables, clinical profile, locomotor, speech and audiology functions were recorded. Data is described in terms of frequency and mean (with SD). RESULTS: Mean age of these children was 4.0 +/- 1.4 years. 70% were male and a similar percentage hailed from urban areas. 88% were mentally retarded with mean IQ of 50 +/- 24.3. Cerebral Palsy was seen in 50% of the children, learning disorder in 24%, Attention Deficit Hyperactivity Disorder (ADHD) in 12% and autism in 4%. 25% of children suffered from epilepsy and 66% were unable to communicate verbally. 21% of children had strong evidence of genetic disorders. An etiological diagnosis could not be made in 31% of children. CONCLUSIONS: Awareness of developmental delay as well as of possible interventions is low in India. Speech delay is the only delay which is considered important by parents. Active involvement and early referrals from pediatricians, obstetricians and other specialists is suggested.

Child, Preschool↗
PubMed2000

3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.

UNLABELLED: Three affected members of one family, each with a different clinical presentation of isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency are described. The index patient presented at 7 weeks of age with feeding difficulties, sweating and tachypnoea. Echocardiography showed a severely dilated left ventricle with minimal contractility. MCC deficiency was suspected on the basis of elevated urinary excretion of 3-hydroxyisovalerate and 3-methylcrotonylglycine. Deficiency of MCC activity was found in lymphocytes and fibroblasts (ca. 2% of mean normal). Serum carnitine was low (free 10 micromol/l). Some other possible causes of cardiomyopathy were excluded. Cardiomyopathy was not improved by carnitine therapy. The healthy father and a developmentally delayed brother also had MCC deficiency. Both also had decreased serum carnitine concentrations, but without cardiac involvement. Dilatative cardiomyopathy as predominant symptom in isolated MCC deficiency has not been described before, although severe carnitine deficiency is a common finding in MCC deficiency. It is not clear whether this is a coincidental association. CONCLUSION: In order to understand the phenotypic spectrum of this rare disorder, cardiac evaluation should be made in patients with 3-methylcrotonyl-CoA carboxylase deficiency. Biochemical and clinical investigations have also to be performed in their parents and siblings. In addition, 3-methylcrotonyl-CoA carboxylase deficiency should be included in the differential diagnosis of dilatative cardiomyopathy.

Adult↗
PubMed1989

The autistic child's theory of mind: a case of specific developmental delay.

In previous tests of the lowest level of a "theory of mind" (i.e. first-order belief attribution), 80% of autistic children were found to be impaired relative to a non-autistic mentally-handicapped control group. The present study examines the 20% of autistic children who have a theory of mind at the lowest level, and tests their ability to use a theory of mind at higher levels (i.e. second-order belief attribution). This autistic subgroup, in comparison to Down's Syndrome and normal control groups, was found to be severely impaired at the higher level. Autism is discussed as a possible case of specific developmental delay.

Adolescent↗
PubMed2025

A founder variant in TBCB is associated with global developmental delay, autism spectrum, and spastic paraparesis.

PURPOSE: Hereditary spastic paraparesis (HSP) is a genetically diverse group of Mendelian disorders characterized by length-dependent axonal degeneration. Microtubule dysfunction is a known mechanism in HSP that impairs axonal dynamics. TBCB encodes tubulin-folding cofactor B (TBCB), which, along with TBCE, regulates &#x3b1;&#x3b2;-heterodimer dynamics and neuronal axonal growth. Here, we describe a new form of complicated HSP caused by a founder variant in TBCB. METHODS: Exome sequencing revealed a homozygous c.589T>A p.(Tyr197Asn) variant in TBCB in a cohort of 10 individuals assembled through genematching tools. Protein function was assessed using Saccharomyces cerevisiae ortholog ALF1, and a CRISPR-Cas9-generated homologous mutant in Drosophila melanogaster. TBCB expression and localization were examined in fibroblasts using western blot and immunofluorescence. RESULTS: Participants displayed late-childhood-onset spastic paraparesis, global developmental delay, and autism spectrum. TBCB protein levels were reduced in affected fibroblasts. The ALF1 mutant in yeast increased benomyl sensitivity, resembling a loss-of-function phenotype. In Drosophila melanogaster, the homologous mutant led to reduced survival and impaired climbing ability. CONCLUSION: We describe a novel neurodevelopmental disorder with spastic paraparesis and a high carrier rate in the Ashkenazi Jewish population. Our results indicate that TBCB has a vital role in the development of central nervous system and potentially in axonal function in humans.

Humans↗
PubMed1999

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.

We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1). However, three of the four individuals developed extensive areas of acanthosis nigricans beginning in early childhood, suffer from severe neurological impairments, and have survived past infancy without prolonged life-support measures. The FGFR3 mutation (A1949T: Lys650Met) occurs at the nucleotide adjacent to the TD type II (TD2) mutation (A1948G: Lys650Glu) and results in a different amino acid substitution at a highly conserved codon in the kinase domain activation loop. Transient transfection studies with FGFR3 mutant constructs show that the Lys650Met mutation causes a dramatic increase in constitutive receptor kinase activity, approximately three times greater than that observed with the Lys650Glu mutation. We refer to the phenotype caused by the Lys650Met mutation as "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) because it differs significantly from the phenotypes of other known FGFR3 mutations.

Acanthosis Nigricans↗
PubMed1998

Cavum septi pellucidi and cavum vergae in normal and developmentally delayed populations.

Recent studies have shown that the persistence of the cavum septi pellucidi beyond the neonatal period is a marker of cerebral dysgenesis. It has been suggested that the finding of a persistent cavum vergae is also a marker of disturbed brain development. In order to investigate this hypothesis we reviewed 161 brain magnetic resonance imaging scans from normal individuals for the presence of cavum septi pellucidi or cavum vergae, or both. In the 34 prospectively obtained normal adults, there were no individuals with either a cavum septi pellucidi or cavum vergae. In the "defined" normal subjects 3 of 127 individuals (2.4%) had a cavum septi pellucidi whereas a cavum vergae was noted in 26 of 127 (20.5%). We next reviewed the neuroimaging studies of 249 children and adults evaluated for mental retardation or developmental delay. A cavum septi pellucidi was found in 38 of 249 (15.3%) and a cavum vergae in 48 of 249 (19.3%) of these patients. A cavum septi pellucidi and cavum vergae were found together in 19 of 249 (7.6%). We interpret these data as showing that the cavum septi pellucidi is rarely seen in normal individuals although the cavum vergae is seen with the same frequency in normal and retarded populations. Thus we conclude that the cavum septi pellucidi serves as a significant marker of cerebral dysfunction manifested by neurodevelopmental abnormalities while the cavum vergae alone does not identify individuals at risk for cognitive delays.

Adolescent↗
PubMed2004

Developmental delay and unstable state of the testes in the rdw rat with congenital hypothyroidism.

From the present study of the rdw rat, it is clear that the thyroid hormone is essential for the development and maintenance of the testes. In previous studies, the thyroid hormone has few serious effects on the testes except during the neonatal stage when the thyroid hormone receptor is mainly present. However, there is little knowledge concerning the prolonged effect of thyroid hormone deficiency throughout the rat's life span. In the present study, a morphological analysis was performed on the testes of rdw rats with congenital hypothyroidism. The rdw testes required a longer time to develop into the normal adult structure. Moreover, the developed, normal structure began to degenerate after full maturation. Specific characteristics of the rdw testes include: (i) a prolonged proliferation of Sertoli cells during postnatal development; (ii) a developmental delay in the appearance of spermatocytes and spermatid; (iii) direct contact with each other for both spermatocytes and spermatids, without Sertoli cell cytoplasm completely intervening between adjacent germ cells; (iv) subsequent apoptosis of germ cells after maturation; (v) reduction in the height of the seminiferous epithelium; and (vi) lower testosterone levels in the rdw rats, especially during old age. Thus, we conclude that the thyroid hormone plays an important role in developing and maintaining normal function of testes.

Aging↗
PubMed1997

Maternal diabetes induces upregulation of hepatic insulin-like growth factor binding protein-1 MRNA expression, growth retardation and developmental delay at the same stage of rat fetal development.

Since maternal diabetes is associated with fetal growth abnormalities in humans and rats, effects of maternal diabetes on fetal expression of genes regulating growth are of interest. Increased expression of Insulin-Like Growth Factor Binding Protein-I (IGFBP-1) is associated with several examples of growth retardation and is upregulated in response to diabetes. As we have shown previously, IGFBP-1 expression is upregulated in gestational day (GD) 14 rat fetuses in response to maternal diabetes. Here we analyze the effect of streptozotocin-induced maternal diabetes on IGFBP-1 mRNA expression during GD12-16 of rat fetal development, using in situ hybridization. IGFBP-1 mRNA was more abundant in GD12-14 fetal livers from diabetic dams than in livers of age-matched controls. This upregulation is not due to the approximately 1-day fetal developmental delay associated with maternal diabetes, as there is no gross difference in the level of IGFBP-1 mRNA in GD13 vs GD12 or GD14 vs GD13 control fetal livers. At GD15-16, however, we detected little difference in IGFBP-1 expression between experimental and control fetuses. This transient period of maternal diabetes-stimulated IGFBP-1 mRNA expression (GD12-14) is coincident with the sensitive period for maternal diabetes-induced defects in fetal growth and development, suggesting that IGFBP-1 is involved in the regulation of fetal growth and development in response to the maternal condition.

Animals↗
PubMed2006

Behaviour and emotional problems in toddlers with pervasive developmental disorders and developmental delay: associations with parental mental health and family functioning.

BACKGROUND: Behavioural and emotional problems occur at a high rate in children and adolescents with intellectual disability, often from a young age. Some studies have indicated that children and adolescents with autism present with even higher rates. Less is known about the presentation, development and family impact of these difficulties in young children with autism. This study aimed to explore these issues in toddlers with pervasive developmental disorders (PDDs), those with delay without a PDD, and their families. METHODS: Participants were 123 children aged 20-51 months, referred to a developmental assessment clinic. Parents completed a checklist on child behavioural and emotional problems, and individual questionnaires on family functioning, their own mental health, and stress in relation to parenting their child. The child's language and cognitive skills, adaptive functioning and behaviour were assessed by standardized measures. Measures were repeated 1 year postdiagnosis. Behavioural and emotional problems in young children with a PDD were compared with those in children with developmental delay without a PDD, and their impact on parental outcomes explored over time. RESULTS: Initial and follow-up measures of child behaviour and emotional problems, parent mental health problems, parent stress and family functioning were significantly correlated, providing some evidence of stability over time. Child emotional and behavioural problems contributed significantly more to mother stress, parent mental health problems, and perceived family dysfunction than child diagnosis (PDD/non-PDD), delay or gender. Compared with mothers, all fathers reported significantly less stress in relation to parenting their child. CONCLUSION: Results highlighted the importance of addressing emotional and behavioural problems in very young children with autism and/or developmental delay. The need for early support and intervention for mothers, fathers and families in this context was also evidenced. As research has shown that behavioural and emotional problems persist into adolescence and young adulthood, understanding of these issues in very young children and their parents has important implications for intervention and long-term outcomes.

Adult↗
PubMed2006

Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?

BACKGROUND: Parents of six children are facing a trial on charges of aggravated manslaughter in the care a 5 1/2 month old infant who died suddenly and neglect of their four older children for causing them to be malnourished by feeding them all an exclusively raw foods vegan diet. Both parents declined plea bargains and plan to defend themselves in court. CASE PRESENTATION: The fifth child born to a married couple was breast-fed until 2 1/2 months. Subsequently, the parents fed the baby an exclusively raw foods diet prepared in a blender at home. The four older children, ages 18 months-6 1/2 years also ate an exclusively raw foods vegan diet. None of the four older children had significant previous injuries or serious illnesses. At autopsy, the infant weighed 3180 mg (6.99 pounds) and appeared emaciated. The thymus gland was absent and parathyroid glands were not located. The lungs were "congested." DiGeorge anomaly cannot be ruled out from these findings. Although, the coroner ruled that "malnutrition" was the sole cause of death, malnutrition, according to the World Health Organization definition, cannot be diagnosed in this infant. Compared with standard growth charts, the older children fell 2.1-4.1 standard deviations below the mean for North American children in height and weight. Labs were normal except for a low cholesterol level in all and a low prealbumin in one of three children tested. Therefore, malnutrition cannot be diagnosed in these children. The pediatrician diagnosed rickets in the four-year-old. However, chest x-rays were normal in all and long bone x-rays showed minimal changes in one child--no sign of rickets. The clinical diagnosis of rickets was not confirmed by the Center for Disease Control's criteria. A psychologist diagnosed the 18-month-old as developmentally delayed to the level of a 15-month-old, but this diagnosis is questionable. CONCLUSION: The raw foods vegan diet and possibly inherited small stature from the father's side account for their relatively low heights and weights. Catch-up growth will probably occur on the standard American diet but would have also been expected if they had remained on a vegan diet.

Body Height↗
PubMed2003

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

The majority of patients with Saethre-Chotzen syndrome have mutations in the TWIST gene, which codes for a basic helix-loop-helix transcription factor. Of the genetic alterations identified in TWIST, nonsense mutations, frameshifts secondary to small deletions or insertions, and large deletions implicate haploinsufficiency as the pathogenic mechanism. We identified three novel intragenic mutations and six deletions in our patients by using a new strategy to screen for TWIST mutations. We used polymerase chain reaction (PCR) amplification with subsequent sequencing to identify point mutations and small insertions or deletions in the coding region, and real-time PCR-based gene dosage analysis to identify large deletions encompassing the gene, with confirmation by microsatellite and fluorescence in situ hybridization (FISH) analyses. The size of the deletions can also be analyzed by using the gene dosage assay with "PCR walking" across the critical region. In 55 patients with features of Saethre-Chotzen syndrome, 11% were detected to have deletions by real-time gene dosage analysis. Two patients had a translocation or inversion at least 260 kb 3' of the gene, suggesting they had position-effect mutations. Of the 37 patients with classic features of Saethre-Chotzen syndrome, the overall detection rate for TWIST mutations was 68%. The risk for developmental delay in patients with deletions involving the TWIST gene is approximately 90% or eight times more common than in patients with intragenic mutations.

Acrocephalosyndactylia↗
PubMed2003

Subtypes of nonsocial play: comparisons between young children with and without developmental delays.

Subtypes of nonsocial play were examined for matched groups of young typically developing children and children with mild developmental (cognitive) delays. Based on intercorrelation patterns, interindividual stability, and associations with peer interaction measures, findings indicated that the nonsocial play of children with delays can be characterized as multidimensional in a manner similar to that of typically developing children. However, analyses suggest different interpretations of the psychological meaning of nonsocial play subtypes for both groups of children than indicated by previous work. Context factors did not influence nonsocial play subtypes. Evidence was found indicating considerable heterogeneity within subtypes, suggesting the need for longitudinal studies focusing on children's peer-related social competence, which may reveal subgroups within subtypes that both refine the constructs and provide direction for clinical interventions.

Case-Control Studies↗
PubMed1994

Variability in adaptive behavior in children with developmental delay.

Although diagnosticians have become increasingly sensitized to the importance of assessing adaptive behavior in persons with intellectual delay, few empirical data have been available with respect to the relationship between these two dimensions of development in referred clinical populations. Subjects in this study were 117 children aged 9 to 111 months who had significantly intellectual delay. All subjects were administered the Developmental Profile II (DPII), a parent-report measure of functional and adaptive skills. Seventy-nine percent of the children with mild intellectual delay obtained Self-Help age scores on the DPII and 74.2% Social Age scores that were within broad chronological age expectations. A surprising percentage of children with moderate and severe intellectual delays also obtained adaptive age scores at this level.

Activities of Daily Living↗