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PubMed1994

Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.

A boy aged 21 months who was being investigated for developmental delay and failure to thrive was found to have punctate epiphyseal calcification. He had no evidence of rhizomelic shortening of the limbs or cataracts. Investigation revealed defective plasmalogen synthesis due to isolated deficiency of dihydroxyacetonephosphate acyltransferase (DHAP-AT). The parents were consanguineous and a sister was similarly affected, suggesting autosomal recessive inheritance. Hitherto, recessively inherited isolated DHAP-AT deficiency has only been described in patients with a phenotype similar to that of rhizomelic chondrodysplasia punctata. This report indicates that the same biochemical disorder can be associated with a less severe phenotype.

Acyltransferases↗
PubMed2001

Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delay.

We present four cases with nephrotic syndrome, microcephaly and severe developmental delay. In the differential diagnosis the Galloway-Mowat syndrome, PEHO syndrome, ARC syndrome and the carbohydrate-deficient glycoprotein (CDG) syndrome are considered and discussed. One case may fall into the Galloway-Mowat spectrum and another case was diagnosed with the CDG syndrome. This case is the third report of a nephrotic syndrome as a part of the CDG syndrome. Two remaining cases with cerebellar and brain stem atrophy, and without major histopathological changes in the kidney were left without a definite unifying diagnosis and may well represent a different unknown condition. Although microcephaly and nephrotic syndrome with or without hiatus hernia has been equated with Galloway-Mowat syndrome in the literature, the brain and renal pathology in these reported cases has been very variable. It is likely that this group as a whole is aetiologically heterogeneous.

Congenital Disorders of Glycosylation↗
PubMed1996

Bilateral internal carotid artery agenesis in a child with psychomotor developmental delay.

In a 2-year-old boy with severe psychomotor developmental delay and a dysmorphic face, a chromosome study revealed a balanced translocation: 46XY,t-(1;3)(p31.2;p21). With magnetic resonance angiography, bilateral internal carotid artery agenesis was diagnosed. Periventricular high-intensity areas were evident on T2-weighted imaging, but no major cerebral malformation was observed.

Abnormalities, Multiple↗
PubMed1997

Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.

Many microdeletion and contiguous gene-deletion syndromes include mental retardation as a clinical feature. We have developed MultiFISH, a FISH assay using several probes to simultaneously screen for multiple microdeletion syndromes in patients who present with unexplained devleopmental delay and/or mental retardation. This screening tool can be used to determine whether a particular microdeletion syndrome is involved in the etiology of these clinical phenotypes. In this pilot study we combined probes for the commonly deleted regions of Prader-Willi, Angelman, Williams, Smith-Magenis, and DiGeorge/velocardiofacial syndromes in a single hybridization. The probes were differentially labeled, allowing multicolor detection, and 200 individual samples were screened in a blinded fashion. For all patients found by MultiFISH to have deletions, the deletions were originally identified and/or later confirmed by use of single-probe FISH analysis in our diagnostic cytogenetics laboratory. One patient, who was referred for developmental delay and was shown to have a normal G-banded karyotype, was identified by MultiFISH as having a micro-deletion at the DiGeorge/velocardiofacial commonly deleted region. Forty-six of the 200 total samples were tested for microdeletions by use of single FISH probes in the diagnostic laboratory. Ten of these cases were found to have deletions, and all deletions were subsequently detected by use of MultiFISH screen performed in a blinded fashion. Additionally, for all 200 patients tested by use of MultiFISH, no false-positive deletion results were observed. We demonstrate the ability of this technique to scan for and to identify microdeletions in a proportion of patients whose routine karyotype appears normal yet who are mentally retarded and/or developmentally delayed.

Child↗
PubMed2006

Seizures, ataxia, developmental delay and the general paediatrician: glucose transporter 1 deficiency syndrome.

AIM: Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an important condition for the general paediatrician's differential armamentarium. We describe a case series of eight patients in order to raise awareness of this treatable neurometabolic condition. The diagnosis of GLUT1-DS is suggested by a decreased absolute cerebrospinal fluid (CSF) glucose value (<2.2 mmol/L) or lowered CSF: plasma glucose ratio (<0.4). METHODS: This is a review of eight Queensland patients with GLUT1-DS. The clinical presentation, clinical course, laboratory investigations and treatment outcomes are discussed. RESULTS: The clinical features noted in our patient cohort include combinations of ataxia, developmental delay and a severe seizure disorder that is refractory to anticonvulsant medications. Seizures are the most common clinical manifestation and may be exacerbated by phenobarbitone. The paired CSF: plasma glucose results ranged from 0.2 to 0.39 (normal <0.6) with an average of 0.33. 3-O-Methyl-D-Glucose uptake and GLUT1 Genotyping analysis have been performed on five patients thus far. Rapid and impressive seizure control was observed in 100% of our patients once the ketogenic diet was instituted, with half of the cohort being able to wean completely from anticonvulsants. CONCLUSION: Children presenting with a clinical phenotype consisting of a refractory seizure disorder, ataxia and developmental delay should prompt the consideration of Glucose transporter 1 deficiency syndrome. While the diagnostic test of lumbar puncture is an invasive manoeuvre, the diagnosis provides a viable treatment option, the ketogenic diet. GLUT1-DS displays clinical heterogeneity, but the value of early diagnosis and treatment is demonstrated by our patient cohort.

3-O-Methylglucose↗
PubMed2006

Prevalence and psychosocial correlates of global developmental delay in 3-year-old children in the United Arab Emirates.

OBJECTIVE: Developmental disabilities are lifelong conditions with considerable public health impact, incurring substantial financial and societal costs. Data on prevalence and associated factors can provide the basis for setting priorities and designing interventions. METHODS: A representative random sample of 694 United Arab Emirates national children aged 3 years were evaluated in a two-stage epidemiological study. RESULTS: Stage 1 screening using the Denver Developmental Screening Test found that 8.4% [confidence interval (CI): 6.4-10.7] had global developmental delay (GDD). Using clinical diagnostic interview in Stage 2, the weighted prevalence for clinically significant developmental disability was estimated to be 2.44% (CI: 1.28-3.56). GDD was associated with pregnancy and birth complications, poor maternal education, family history of developmental problems, and major traumatic life events, as well as behavioral problems in children. CONCLUSION: Our findings suggest the need for comprehensive and early screening programs for developmental problems, and the importance of training medical and child care professionals accordingly.

Child, Preschool↗
PubMed2006

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.

The underlying cause of mental retardation remains unknown in up to 80% of patients. As chromosomal aberrations are the most common known cause of mental retardation, several new methods based on FISH, PCR, and array techniques have been developed over recent years to increase detection rate of subtle aneusomies initially of the gene rich subtelomeric regions, but nowadays also genome wide. As the reported detection rates vary widely between different reports and in order to compare the diagnostic yield of various investigations, we analyzed the diagnostic yield of conventional karyotyping, subtelomeric screening, molecular karyotyping, X-inactivation studies, and dysmorphological evaluation with targeted laboratory testing in unselected patients referred for developmental delay or mental retardation to our cytogenetic laboratory (n = 600) and to our genetic clinic (n = 570). In the cytogenetic group, 15% of patients showed a disease-related aberration, while various targeted analyses after dysmorphological investigation led to a diagnosis in about 20% in the genetic clinic group. When adding the patients with a cytogenetic aberration to the patient group seen in genetic clinic, an etiological diagnosis was established in about 40% of the combined study group. A conventional cytogenetic diagnosis was present in 16% of combined patients and a microdeletion syndrome was diagnosed in 5.3%, while subtelomeric screening revealed only 1.3% of causes. Molecular karyotyping with a 10 K SNP array in addition revealed 5% of underlying causes, but 29% of all diagnoses would have been detectable by molecular karyotyping. In those patients without a clear diagnosis, 5.6% of mothers of affected boys showed significant (>95%) skewing of X-inactivation suggesting X-linked mental retardation. The most common diagnoses with a frequency of more than 0.5% were Down syndrome (9.2%), common microdeletion 22q11.2 (2.4%), Williams-Beuren syndrome (1.3%), Fragile-X syndrome (1.2%), Cohen syndrome (0.7%), and monosomy 1p36.3 (0.6%). From our data, we suggest the following diagnostic procedure in patients with unexplained developmental delay or mental retardation: (1) Clinical/dysmorphological investigation with respective targeted analyses; (2) In the remaining patients without an etiological diagnosis, we suggest conventional karyotyping, X-inactivation screening in mothers of boys, and molecular karyotyping, if available. If molecular karyotyping is not available, subtelomeric screening should be performed.

Child, Preschool↗
PubMed1990

Myelination patterns on magnetic resonance of children with developmental delay.

Magnetic resonance (MR) imaging was performed in 30 children with unexplained developmental delay who had associated neurological abnormalities such as seizures, spasticity, hypotonia, ataxia or poor vision. No child had a history of regression, preterm birth or neonatal cerebral injury. CT scans were performed before MR in all cases and were either normal or showed only mild atrophy. At least two MR sequences were obtained for all patients. Nine children had delayed or absent myelination on MR, one had patchy white-matter abnormalities, and in one patient myelination was topographically normal, but of inappropriately low signal intensity. MR was abnormal in six of seven children who had abnormal brainstem auditory evoked potentials (BAEP), and was normal in nine of 11 patients who had a normal BAEP. MR may have a useful rôle in demonstrating abnormal white-matter maturation in children with unexplained neurodevelopmental delay, particularly when abnormalities are found on BAEP studies.

Brain↗
PubMed1986

Patterns of temperament variation in three groups of developmentally delayed preschool children: mother and father ratings.

Patterns of temperament variation in the developmentally delayed preschool population have not been adequately studied. The present paper reports temperament data for children 2 to 4 1/2 years old: 32 with Down's syndrome, 29 with neurological problems, and 35 with delays of unknown etiologies, as reported by their mothers and fathers. Results indicate that children in the total delayed sample are more approaching, less intense, less persistent, and have higher thresholds for stimulation than those in the normative sample. There were differences among the three groups in activity level, approach/withdrawal, and distractibility. Furthermore, on these three dimensions, mothers scored their children as more difficult than did fathers. These data highlight the need for adequate norms for subgroups of delayed children, and suggest that inclusion of temperament assessment can be a useful part of the clinical care of delayed children and their parents.

Child, Preschool↗
PubMed1999

Observational learning in children with Down syndrome and developmental delays: the effect of presentation speed in videotaped modelling.

Children with severe developmental delays (three with Down syndrome and three with autism as the primary diagnosis) observed a videotaped model performing two basic dressing skills without prompting, verbal or otherwise, or explanation by an instructor. In a within-subjects design, dressing skills that were presented at a relatively slow presentation speed through videotaped modelling were eventually performed better than those presented at a relatively fast speed. These data in combination with evidence from this laboratory that passive modelling of basic skills is more effective than interactive modelling (e.g., Biederman, Fairhall, Raven, & Davey, 1998; Biederman, Davey, Ryder, & Franchi, 1994; Biederman, Ryder, Davey, & Gibson, 1991) suggest that standard instructional techniques warrant reexamination both from the basis of instructional effectiveness and the efficient use of the allotment of teacher time.

Child↗
PubMed1988

Improving the social-conversational skills of developmentally delayed children: an intervention study.

Twenty mothers and their preschool-aged, developmentally delayed children participated in this parent-focused intervention study. Nine mother-child dyads received an 11-week training program that espoused a social-conversational approach, while 11 dyads served as controls. Pre- and posttest videotapes were transcribed and coded to yield measures of turn taking, as well as indexes of responsiveness, topic control, and uninvolvement. Following treatment, the mothers in the experimental group were more responsive to and less controlling of their children's behavior than the mothers in the comparison group. The children initiated more topics, were more responsive to their mother's preceding turns, and used more verbal turns and a more diverse vocabulary than the control group children. No differences in language development, as measured by a standardized test, were found. Individual maternal responses to intervention as well as implications for modifying parent training programs are discussed.

Child, Preschool↗
PubMed1991

Adaptive behavior of preschool children with developmental delays: parent versus teacher ratings.

Parents and teachers of 20 children with developmental delays, 24 through 38 months of age, from an early education program in Columbus, Ohio, were interviewed using the Adaptive Behavior Scale for Infants and Early Childhood. Significant differences were found between some of the ratings over the 23 domain and 11 subdomain scores, specifically in regard to sex of the child and length of time of the child's participation in the program. Parents provided higher ratings than did teachers on some domains. In general, parents and teachers tended to agree on the overall adaptive functional levels.

Activities of Daily Living↗
PubMed1993

Age-related changes in stress experienced by families with a child who has developmental delays.

The hypothesis that stress in families increases as a child with developmental delays grows older was evaluated. Mothers with children ranging in age from 2 to 18 years were assigned to a preschool, middle childhood, or adolescent group and asked to complete the Parenting Stress Index (PSI). Results indicated that Child Domain scores were high for all groups, but Parent Domain scores were within normal limits. The middle childhood group was consistently higher in both domains than either the younger or older groups. Degree of handicap was not associated with mothers' stress in the preschool group, but was related to PSI scores for both other groups. Behavior problems were highly correlated with maternal stress for the middle childhood and adolescent groups (data not available for preschool group).

Activities of Daily Living↗
PubMed2002

What do you do when they grow up? Approaches to seizures in developmentally delayed adults.

Epilepsy and developmental disabilities (DD) often occur together but affect individuals differently and have a complex causal relationship. Most epilepsy in the population with DD is partial or symptomatic generalized. Seizures and antiepileptic drugs (AEDs) can further delay development, and the DD can complicate treatment and adjustment to epilepsy. Medical care and decision making require careful coordination of health care providers and the family, especially because of the trend for the patients to live in group homes. Behavioral and psychiatric disorders are difficult to diagnose but common in those with DD and epilepsy; psychiatric disorders are perhaps up to sevenfold higher in this group than in the general population. Psychotropic medications-antidepressants, anxiolytics (but use caution with benzodiazepines), antipsychotics, and stimulants-are appropriate for those with psychiatric disorders. Diagnostic difficulties may lead to undertreatment, and the motivation to lessen certain behaviors may lead to overtreatment. Because those with DD may be unusually sensitive to adverse effects of both seizures and AEDs, cognitive and behavioral side effects must be carefully monitored. Few relevant studies exist. For some patients, comorbid psychiatric disorders may be treated with one AED, such as carbamazepine, lamotrigine, or valproate. Phenobarbital and phenytoin may be inappropriate for those with epilepsy and DD. Studies have shown some success with oxcarbazepine (for partial and generalized epilepsy) and with adjunctive lamotrigine. For those on medication regimens, perhaps taking combinations of drugs for numerous years, queries about earlier attempts to reduce AEDs and gradual efforts to substitute less toxic mediations are worthwhile. Vagus nerve stimulation and epilepsy surgery for those with medically refractory epilepsy may be options after careful evaluation.

Adult↗
PubMed2006

A mental health clinic for toddlers with developmental delays and behavior problems.

A mental health clinic was developed for toddlers with developmental disabilities and significant behavior problems from families living in poverty. The clinic was a collaborative effort between a community-based Birth-to-Three agency and a university. The purpose of this clinic was threefold: to provide direct mental health services for these young children, to train graduate students to work with this population, and to begin to contribute to the limited research available in this area. This paper describes the clinical intake procedures and outcomes for the 81 children served by the clinic over a 2-year period. Referral concerns included tantrums, aggression, oppositional behaviors, hyperactivity, and self-injury. The children came from a diverse group of families living in poverty; single mothers with less than a high school education headed most of the households. The clinical intake included direct observations of parent-child interactions, child behavior assessments, and parental interviews and self-report measures. For the present sample, 77% of the children met the criteria for a developmental disability and nearly 70% also met the criteria for a psychiatric disorder. The most common diagnosis was oppositional defiant disorder. Discussion regarding the challenges inherent in working with families of toddlers with developmental delays and psychiatric disorders living in low-income circumstances is included.

Ambulatory Care Facilities↗
PubMed1994

Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies.

We report a 15-month-old female with developmental delay, hypotonia, and minor anomalies whose karyotype is 47,XX,+r. Due to its small size, the origin of the ring chromosome was indeterminate by standard G-banded karyotyping. Fluorescent in situ hybridization was performed, which indicated that the ring chromosome was derived from the pericentric region of chromosome 8.

Abnormalities, Multiple↗
PubMed1991

Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

Four children (two boys and two girls) with hypoparathyroidism, renal insufficiency, and developmental delay are described. They were the products of consanguineous marriages in three related Asian families presenting over a six year period. All the children died within the first 15 months of life despite treatment. Postmortem examination on one child showed absent parathyroid glands. We believe these children represent a previously undescribed syndrome that appears to be inherited in an autosomal recessive manner.

Child, Preschool↗