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PubMed1996

Proximal trisomy 1q in a girl with developmental delay and minor anomalies.

We report on a girl with developmental delay, macrocephaly, facial asymmetry, small downturned palpebral fissures, high and narrow palate, micrognathia, short neck, a heart defect, and unilateral renal agenesis. Cytogenetic analysis showed a proximal tandem duplication of the long arm of chromosome one (1q12-->q21.3). This abnormality was suggested by G- and C-banding but it was specifically characterized by fluorescent in situ hybridization (FISH). Clinical findings in our patient are compared with those of the literature in an attempt to delineate the phenotype in patients with proximal 1q duplication.

Child, Preschool↗

PubMed1988

MR evaluation of early myelination patterns in normal and developmentally delayed infants.

This study demonstrates the ability of MR imaging to show progression of myelination in 64 infants and young children (ages 4 days to 36 months). T2-weighted spin-echo pulse sequences, frequently used for routine screening of intracranial disease, were used. Gray-white matter differentiation was seen in all patients, and changes occurring with age were documented. Three distinct patterns were seen, and age ranges were established for each pattern in developmentally normal children: (1) infantile (birth-6 months); (2) isointense (8-12 months); and (3) early adult (10 months onward). There was a statistically significant difference between the age ranges of the normal and developmentally delayed children showing all three patterns. These data should be helpful for identifying and following sequentially both infants with clinically suspected developmental delay and those with dysmyelinating or demyelinating disease.

Brain↗

PubMed2002

Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay.

A five-year-old Caucasian male presented with developmental delay, minor dysmorphic features, and hyperactivity. Cytogenetic analysis showed the presence of a marker chromosome in the majority of cells analyzed. Fluorescence in situ hybridization (FISH) analyses using several alpha satellite probes, including D13Z1/D21Z1, did not reveal any signal on the marker chromosome. Subsequent multicolor FISH (M-FISH) indicated the marker to be derived from chromosome 13, and FISH with a chromosome 13 paint confirmed this finding. The absence of D13Z1/D21Z1 signal on the marker suggested that it was analphoid in nature. Comparative genomic hybridization (CGH) was utilized to further characterize the region of chromosome 13 from which the marker originated, and unexpectedly revealed a gain of chromosomal material at both the centromeric regions of chromosomes 3 and 13. In view of the CGH results, extensive FISH studies with D3Z1 and D13Z1/D21Z1 were performed and revealed the presence of four cell lines comprising one normal cell line (50.5%), a cell line with a chromosome 3 derived marker (19%), a cell line containing a marker derived from chromosome 13 (20%), and a cell line with both markers (10.5%). As the two markers appeared morphologically similar by GTG banding, all 47,XY metaphases in the initial analysis were thought to comprise only a single marker. This is the first report, to our knowledge, of the presence of a chromosome 3 and a chromosome 13 marker in mosaic condition in a congenital disorder. In light of our experience, we urge caution in interpreting karyotypes with marker chromosomes. Our case illustrates the limitations of fluorescent DNA probes and sampling errors.

Child, Preschool↗

PubMed2002

The effect of therapeutic horseback riding on gross motor function and gait speed in children who are developmentally delayed.

The purpose of this study was to measure the effects of a seven-week therapeutic horseback riding program and to determine if changes were retained after therapeutic riding was discontinued. A repeated-measures within-participants design was used to assess performance on the Gross Motor Function Measure and timed 10-meter walk in seven developmentally delayed children. A statistically significant improvement in gross motor function was found in post-intervention measures. Improvements were maintained seven weeks after therapeutic riding had ended. No considerable difference in gait speed was noted. This study indicates that therapeutic riding may lead to improvement in gross motor function in developmentally delayed children and that these improvements remain once therapeutic riding ceases.

Analysis of Variance↗

PubMed2005

Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene.

AIMS: Gelatinous drop-like corneal dystrophy (GDLD) is an early-onset, autosomal recessive condition characterised by amyloid deposits within the cornea. We report the histopathological and molecular genetic findings in a Caucasian child with GDLD who also exhibited global developmental delay. METHODS: Bilateral lamellar keratoplasty was carried out at age 6 and 7 years. Tissue was fixed for light and electron microscopy, including immunoelectronmicroscopy. The coding region of the M1S1 gene was screened for mutations in the affected proband and available relatives, using DNA extracted from mouthwashes. RESULTS: Nodular deposits, which were present subepithelially and in the central superficial stroma, stained typically for amyloid with PAS and Congo red. A nodular deposit of amyloid, together with large amounts of lactoferrin and sparse amounts of keratoepithelin (betaig-h3), was present in the central superficial stroma, causing destruction of Bowman's layer and elevation of the thinned, degenerate epithelium. Around the deposit zone, the stroma exhibited large numbers of thick filamentous proteoglycan deposits. While the affected child was homozygous for a novel A1133 C single-nucleotide polymorphism (SNP) that resulted in an aspartic acid to alanine substitution at position 173 of the M1S1 coding sequence, this polymorphism was also found at relatively high frequency in a sample of normal controls, enabling exclusion of the M1S1 gene as the disease locus. CONCLUSION: Increased epithelial permeability in GDLD may be explained in part by an altered membrane permeability of the superficial epithelial cells. An association with developmental delay has not been reported previously.

Amyloid↗

PubMed1985

Tympanometry screening in developmentally delayed individuals.

Residents of the Huronia Regional Centre for the developmentally disabled (N:900) underwent otoscopic screening (canal "clear" vs "not clear") and tympanometric screening, including tympanometry and physical volume measures (Ss exhibiting Type B tympanograms were classified "hard positive"). Results showed that (1) by otoscopy, 53.2% of all Ss examined had canals "not clear". (2) Overall, degree of retardation was loosely related to prevalence of abnormal otoscopy. (3) The etiologies for mental retardation of "metabolism" and "chromosomal abnormalities" (including all Down's Syndrome cases) were most prone to be in the "not clear" otoscopic category. By tympanometry, 25.8% were classified "hard positive". Overall, conductive disorders as assessed by tympanometry increased significantly with degree of mental retardation. Chromosomal abnormalities yielded a significantly higher proportion of "hard positive" cases (43%) than any other etiology. Identification of sub-populations at risk for conductive disorders, such as those of chromosomal abnormalities and/or more severe developmental delays will enable the employment in the future of more efficient auditory screening techniques.

Acoustic Impedance Tests↗

PubMed2006

Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.

AIMS/HYPOTHESIS: Activating mutations in the KCNJ11 gene encoding the Kir6.2 subunit of the K(ATP) channels in pancreatic beta cells are a common cause of neonatal diabetes. One-third of patients also have developmental delay, which probably results from mutated K(ATP) channels in muscle, nerve and brain. Sulfonylureas, which bind to the sulfonylurea receptor 1 subunit of the K(ATP) channel, can replace insulin injections in patients with KCNJ11 mutations. The aim of this study was to investigate the long-term outcome and impact on neurological features of sulfonylurea treatment. METHODS: We report the response to sulfonylurea treatment in a boy with neonatal diabetes and marked developmental delay resulting from the KCNJ11 mutation V59M. RESULTS: Glibenclamide (glyburide) treatment was started at 23 months and resulted in insulin being discontinued, lower overall glycaemia, reduced glucose fluctuations and reduced hypoglycaemia. Good control (HbA(1c) 6.5%) was maintained 2 years after discontinuing insulin, despite a reduction in the glibenclamide dose (from 0.41 to 0.11 mg.kg(-1).day(-1)). Within 1 month of starting glibenclamide there was marked improvement in motor function, resulting in the patient progressing from being unable to stand unaided to walking independently, but there was no improvement in mental function. CONCLUSIONS/INTERPRETATION: This 2-year follow-up of a patient highlights that sulfonylurea treatment can result in prolonged, excellent glycaemic control and may improve motor features, but not mental features, associated with KCNJ11 mutations. This suggests that the neurological actions of sulfonylurea are initially principally on peripheral (nerve or muscle) rather than on central (brain) K(ATP) channels. Early molecular diagnosis is important in patients with neonatal diabetes and neurological features.

Amino Acid Substitution↗

PubMed1997

Relation between very low birth weight and developmental delay among preschool children without disabilities.

The authors examined the relation between very low birth weight (VLBW: < 1,500 g) and possible developmental delay (DELAY) in the absence of frank developmental disability among young children. The prevalence of DELAY in a population-based cohort (Missouri resident births born from December 1989 through March 1991) of singleton VLBW children (n = 367) was compared with the prevalence of DELAY among both moderately low birth weight (MLBW: 1,500-2,499 g; n = 553) and normal birth weight (NBW: > or = 2,500 g; n = 555) singleton control children. DELAY was defined by nine measures of performance on the Denver Developmental Screening Test II at a median adjusted age of 15 months (range: 9-34 months). Subjects were asymptomatic for disabling conditions at developmental follow-up. Apparently well VLBW children were consistently at greater risk for both moderate and severe measures of DELAY and for DELAY across four functional areas than were either the MLBW (adjusted odds ratios: 1.4-2.7) or NBW children (adjusted odds ratios: 2.1-6.3). The greatest prevalence of DELAY tended to be among appropriate-for-gestational age VLBW children who were also the most premature. This study supports developmental follow-up of nondisabled VLBW children because of the significantly elevated risk for DELAY among apparently normal infants.

Alcohol Drinking↗

PubMed1999

Pervasive developmental delay in children presenting as possible hearing loss.

OBJECTIVE/HYPOTHESIS: Children who fail to develop adequate language skills and/or appropriate social skills by age 2 years often are referred to the department of otolaryngology for otolaryngologic examination and evaluation of possible hearing deficits. Discovering a gross disparity between hearing function and language ability often uncovers an underlying developmental disorder satisfying criteria for diagnosis on the spectrum of autism and pervasive developmental delay (PDD). The otolaryngologist has a unique opportunity to identify these autistic children and initiate their evaluation and management. STUDY DESIGN: Retrospective review. METHODS: Review of charts of children referred over the past 4 years to the Department of Otolaryngology for possible hearing loss identified 15 children who were later diagnosed with PDD. RESULTS: Fifteen children initially referred for hearing evaluation were subsequently identified with a diagnosis of PDD. Males outnumbered females 4 to 1, with the average age of referral being 2 years. One third of the patients displayed middle ear disease that improved with PE tube placement. One third of the patients showed brainstem conduction dysfunction on auditory brainstem evoked response testing. CONCLUSIONS: Children with developmental delays, especially higher functioning ones, may present with a myriad of language and communication deficits that are often mistakenly attributed to hearing loss. Otolaryngologists and audiologists can assist in their early identification and appropriate referral for therapy.

Audiometry, Pure-Tone↗

PubMed1999

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.

We previously discovered a novel missense mutation (Lys650Met) in the tyrosine kinase domain of the fibroblast growth factor receptor 3 (FGFR3) gene in four unrelated individuals with a condition we called "severe achondroplasia with developmental delay and acanthosis nigricans" (SADDAN) [Tavormina et al., 1999: Am. J. Hum. Genet. 64:722-731]. Here we present a more detailed clinical account of the SADDAN phenotype. The FGFR3 Lys650Met mutation results in severe disturbances in endochondral bone growth that approach and overlap those observed in thanatophoric dysplasia, type I. However, this mutation is most often compatible with survival into adulthood. Other unusual bone deformities, such as femoral bowing with reverse (i.e., posterior apex) tibial and fibular bowing and "ram's horn" bowing of the clavicle, are also seen in some patients. In addition to skeletal dysplasia, progressive acanthosis nigricans, and central nervous system structural anomalies, seizures and severe developmental delays are observed in surviving SADDAN patients. Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.

Acanthosis Nigricans↗

PubMed2004

The relationship between parental concerns and professional assessment in developmental delay in infants and children--a hospital-based study.

BACKGROUND: Developmental delay (DD) in infants and children is one of the chief complaints of parents. It has been established that the concerns of parents are as accurate as quality screening tests. Some kinds of concerns are particularly useful in the early detection of associated developmental problems. The purpose of this study was to investigate the relationship between the main parental concerns and the final diagnosis based on professional assessment of children who are suspected to have DD. METHODS: One-hundred and 1 infants or children were recruited into this study. The major concerns of parents were elicited and categorized by various developmental domains: speech, motor, behavioral, cognitive, global, and non-specific developmental problems. All children underwent comprehensive combined assessments by professionals in the hospital, and were classified into 6 subtypes: speech, motor, behavioral, cognitive, and global DD, and normal development. RESULTS: Our results revealed that parental concerns about speech, motor, and behavioral development yielded a high sensitivity to the final diagnosis of the same developmental domain (77-89%). However, concerns about cognitive and global DD had limited sensitivity (15-36%). On the other hand, concerns about global, speech, and motor DD had relatively higher positive predictive values (55-77%). Comparatively, cognitive or behavioral concerns had lower positive predictive values (25-33%). CONCLUSIONS: Such results indicate that parents play an important role in detecting speech, motor and behavioral DD in children. Parental concerns about cognition and behavior should be questioned in terms of their association with the real problem. This information may be useful in establishing trends in understanding the discrepancy or relationship between parental concerns and professional assessments in DD.

Child↗

PubMed2005

Neuropathic visceral dysmotility, brain cysts and calcifications, facial dysmorphism and developmental delay in two sibs. A new syndrome?

Syndromes with smooth muscle dysmotility are uncommon, and may be related either to smooth muscle myopathy, or to neuropathy. In most instances, neuropathic visceral dysmotility is an isolated finding leading to chronic intestinal pseudo-obstruction syndrome (CIPO). We report here on two sibs, born to consanguineous parents, with neuropathic visceral dysmotility and CNS anomalies. They share facial dysmorphia, neurogenic megacystis, intracerebral calcifications, and developmental delay. The elder one, a girl, has microcephaly and multicystic kidneys, and her brother has a more extensive neuropathic visceral disorder leading clinically to CIPO. CIPO associated with megacystis is relatively frequent but is rarely associated with mental retardation. The cases reported in the literature are different from those described here, clinically and histologically. A recessively inherited form of CIPO associated with widespread intra-cerebral calcifications, malabsorption is known as Cockel syndrome. Severity of Cockel syndrome, absence of urinary tract involvement and neuropathologic discrepancies allow distinction with the disorder reported here. In conclusion, the two siblings described here have facial dysmorphia, vesical and (in one of them) intestinal neurogenic dysmotility, intracerebral calcifications and developmental delay that could represent a specific, recessively inherited form of CIPO.

Calcinosis↗

PubMedDate not supplied

Neural correlates of face and object recognition in young children with autism spectrum disorder, developmental delay, and typical development.

This study utilized electroencephalographic recordings to examine whether young children with autism spectrum disorder (ASD) have impaired face recognition ability. High-density brain event-related potentials (ERPs) were recorded to photos of the child's mother's face versus an unfamiliar female face and photos of a favorite versus an unfamiliar toy from children with ASD, children with typical development, and children with developmental delay, all 3 to 4 years of age (N = 118). Typically developing children showed ERP amplitude differences in two components, P400 and Nc, to a familiar versus an unfamiliar face, and to a familiar versus an unfamiliar object. In contrast, children with ASD failed to show differences in ERPs to a familiar versus an unfamiliar face, but they did show P400 and Nc amplitude differences to a familiar versus an unfamiliar object. Developmentally delayed children showed significant ERP amplitude differences for the positive slow wave for both faces and objects. These data suggest that autism is associated with face recognition impairment that is manifest early in life.

Autistic Disorder↗

PubMed1986

Family responses to developmentally delayed preschoolers: etiology and the father's role.

Parents of 59 developmentally delayed preschoolers (18 with Down syndrome, 19 with neurological problems, and with 22 unknown etiologies) responded to questionnaires and structured interviews to assess parental stress and support, locus of control, and self-esteem. There were group differences in maternal reports of positive experience with the child, self-esteem, reported support, and relations with grandparents. With the exception of self-esteem, all comparisons favored the Down syndrome group. Fathers reported fewer distress symptoms, higher self-esteem, more internal locus of control, and less support than did mothers. These findings indicate a need to understand individual differences among families of delayed children and illustrate that the effects of a child's handicap on fathers differ from those upon mothers.

Adult↗

PubMed2005

A de novo, apparently balanced reciprocal translocation in a child with developmental delay whose mother was being treated with low-dose methotrexate at the time of conception.

BACKGROUND: Methotrexate is a proven teratogen and its use periconceptually is strongly advised against. Concerns about possible chromosomal effects in the offspring of women treated with this agent have been raised, but they have not been reported. In vivo and in vitro studies have supported this possibility, however. CASE: A 32-year-old primigravida was treated with low-dose methotrexate for rheumatoid arthritis from prior to conception until six weeks postconception. Her child was born without congenital malformations but subsequently developed seizures and was diagnosed with developmental delay. He was found to have a de novo, apparently balanced, reciprocal translocation between chromosomes 5 and 20 (46,XY,t(5:20)(q15;p12)). Other investigations failed to reveal another cause for his developmental delay. CONCLUSIONS: The possible association between maternal methotrexate exposure and a de novo chromosomal anomaly in an offspring supports the recommendation that women should be advised to cease taking this drug for at least six months prior to conception.

Adult↗

PubMed1998

Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene.

Bloom's syndrome is a human autosomal genetic disorder characterized at the cellular level by genome instability and increased sister chomatid exchanges (SCEs). Clinical features of the disease include proportional dwarfism and a predisposition to develop a wide variety of malignancies. The human BLM gene has been cloned recently and encodes a DNA helicase. Mouse embryos homozygous for a targeted mutation in the murine Bloom's syndrome gene (Blm) are developmentally delayed and die by embryonic day 13.5. The fact that the interrupted gene is the homolog of the human BLM gene was confirmed by its homologous sequence, its chromosomal location, and by demonstrating high numbers of SCEs in cultured murine Blm-/- fibroblasts. The proportional dwarfism seen in the human is consistent with the small size and developmental delay (12-24 hr) seen during mid-gestation in murine Blm-/- embryos. Interestingly, the growth retardation in mutant embryos can be accounted for by a wave of increased apoptosis in the epiblast restricted to early post-implantation embryogenesis. Mutant embryos do not survive past day 13.5, and at this time exhibit severe anemia. Red blood cells and their precursors from Blm-/- embryos are heterogeneous in appearance and have increased numbers of macrocytes and micronuclei. Both the apoptotic wave and the appearance of micronuclei in red blood cells are likely cellular consequences of damaged DNA caused by effects on replicating or segregating chromosomes.

Animals↗

PubMed1997

Peer social networks of young boys with developmental delays.

Community-based peer social networks of young boys with developmental delays and parental arranging and monitoring of their child's peer contacts were examined. Comparisons were made to matched groups of children who were developing typically and to children with communication disorders. Results showed more limited peer social networks for both groups of children with disabilities based primarily on the frequency of contacts with peers and linkages established across school and community settings. All three groups were indistinguishable from one another on numerous measures of peer social networks, including duration and quality of individual relationships and participation in organized group activities with peers. Groups also differed on parental arranging and monitoring, which appeared to be related to children's developmental level.

Analysis of Variance↗

PubMed1998

Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome.

We describe two boys with global developmental delay and a phenotype of microcephaly, midface hypoplasia, enlarged fleshy ears, depressed nasal bridge, anteverted nostrils, central palatal ridge, and high forehead. Bilateral congenital fat pads are present anteromedial to the heels. Fetal finger and toe pads are present and palmar and plantar grooves are deeper than normal with "pillowing" of the areas between the grooves. No patients with similar clinical findings have been located, but these two children have a remarkably similar clinical presentation which we consider a "new" syndrome.

Child↗