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R J Hagerman

Publications and source records attributed to R J Hagerman.

At least 73 records · Page 4Linked to original sources
PubMed1992

Standards for selected anthropometric measurements in males with the fragile X syndrome.

Standards (95th, 50th, and 5th percentiles) in fragile X syndrome for weight, height, head circumference, ear length, and testicular volume are reported. For comparison with fragile X syndrome standardized curves, normal control data from the literature were similarly plotted and curves produced. These standards reflect the physical parameters that are frequently abnormal in males with the fragile X syndrome and should be useful in the medical management of patients with this syndrome. The standards may also be used to help identify those individuals, particularly the younger males, for chromosome studies to confirm the clinical impression of the fragile X syndrome.

Adolescent↗
PubMed1992

Girls with fragile X syndrome: physical and neurocognitive status and outcome.

The fragile X syndrome, a common X-linked form of mental retardation and autism, affects females as well as males. Previous work has shown that approximately 35% of heterozygotes (women who carry the fragile X gene) demonstrate cognitive impairment. Thirty-two girls, 18 years or younger, who demonstrate the fragile X chromosome were evaluated and compared with 19 sisters who do not demonstrate the fragile X chromosome. Evaluations included a physical examination, behavioral assessment, and intelligence testing. Significant differences (in intellectual, behavioral, and physical features) were seen between the two groups. Twenty-five percent of fragile X-positive girls had an IQ in the mentally retarded range (IQ less than 70) and 28% had an IQ in the borderline range (70 to 84). Prominent ears, shyness, and poor eye contact were significant findings in fragile X-positive girls compared with fragile X-negative girls. Thirty-one percent of the fragile X-positive girls had significant attentional difficulties and most of these girls were successfully treated with stimulant medication. The majority of fragile X-positive girls in this study demonstrated significant behavioral and developmental problems which required identification and appropriate treatment. Pediatricians and health care providers should be aware of the frequency and manner with which fragile X affects females in order to initiate cytogenetic studies and treatment when indicated.

Adolescent↗
PubMed1990

Neuropsychological dysfunction among affected heterozygous fragile X females.

Fragile X (or Martin-Bell) syndrome is an X-linked disorder that often produces mental retardation in males, but usually affects heterozygous females to a lesser degree. Here we report the results of a brief neuropsychological examination of 20 heterozygous fra(x) girls and women and two control groups of 20 individuals each. One control group was composed of fra(x)-negative mothers (obligate carriers) and sisters of male probands with fra(x) syndrome, whereas the other was composed of 14 head-injured and six learning disabled women and girls. In addition to general intellectual impairment, several specific cognitive deficits were consistently found in individuals with the Martin-Bell syndrome, suggesting focal neuropsychological dysfunction. Significant differences were noted between fra(x) individuals and controls on most cognitive and neuropsychological measures studied. Over one-third of the fra(x) individuals demonstrated neuropsychological symptoms characteristic of the full developmental Gerstmann syndrome, whereas another third had three or four of the five signs of possible parietal lobe dysfunction. In our sample, there was an association between improved performance and increasing age. Differences among heterozygous individuals in number of focal symptoms may reflect some variability in the penetrance of the fra(x) gene, as well as in the functional organization of the brain.

Adolescent↗
PubMed1990

Developmental implications of changing trajectories of IQ in males with fragile X syndrome.

This study examined the trajectories of cognitive development in boys under the age of 21 years with fragile X syndrome. By combining information from three centers, data from 66 boys were analyzed; only children who had been tested two or more times with the same psychometric instrument at one or more year intervals were included in this study. Results demonstrated that males with fragile X syndrome show a decline in IQ scores, with the most marked declines seen during the early pubertal period. All 22 children retested during the 11- to 15-year period showed IQ declines, suggesting a slowing of development associated with the onset of puberty. Before age 10 years, males with higher (as opposed to lower) pretest IQs were more likely to decline at subsequent testings. A single etiological factor may not be sufficient to account for the observed findings, as both changes in neurobiological- and task-related factors seem implicated in the slowing intellectual development of this population.

Adolescent↗
PubMed1990

Orthopaedic aspects of fragile-X syndrome.

Fragile-X syndrome is one of the most common inherited forms of mental retardation. An associated connective-tissue disorder involving elastin accounts for the most frequent musculoskeletal manifestations, which include severe flexible flat feet, excessive laxity of the joints, and scoliosis. At our institution, seventy-five (50 per cent) of the 150 male patients who had fragile-X syndrome had flat feet, eighty-five (57 per cent) had excessive laxity of the joints, and ten had scoliosis. Twenty-nine of the patients who had flat feet had been evaluated or treated, or both, by an orthopaedic surgeon before the diagnosis of fragile-X syndrome had been made. Only one of these patients had been referred for developmental and genetic evaluation, which suggests that the orthopaedic community is not familiar with this syndrome. The orthopaedist should consider the diagnosis of fragile-X syndrome in the evaluation of a mentally retarded boy or man who has a family history of mental retardation. The presence of flat feet and excessive laxity of the joints, associated with the characteristic facies, macro-orchidism, and behavior, justifies a referral for developmental and genetic evaluation. Early diagnosis is important for several reasons, including genetic counseling for the family, more efficacious medical treatment, and specialized education.

Adolescent↗
PubMed1989

Longitudinal IQ changes in fragile X males.

Previous studies have reported a drop of IQ in males with Martin-Bell or fragile X syndrome during childhood and adolescence. It is uncertain when and why this drop occurs and whether it affects all fragile X males. We have analyzed longitudinal IQ data on all 24 fragile X males who have been followed for at least 2 years through the Child Development Unit in Denver and who have been evaluated with a Stanford-Binet Form L-M assessment. A significant drop in IQ occurred for the group as a whole, but an individual z analysis demonstrated that only 7 of 24 had a significant decline in IQ. Visual inspection demonstrates an initial decline in IQ beginning in middle childhood and continuing through adolescence. We postulate that this drop occurs because of relatively greater weaknesses with abstract reasoning and higher symbolic language skills that are stressed in the cognitive testing of later childhood and adolescence.

Adult↗
PubMed1989

Psychopathology in fragile X syndrome.

The fragile X syndrome is the most common known familial form of mental retardation. Young males commonly demonstrate hyperactivity and a short attention span, as well as physical abnormalities, some of which may lead to a diagnosis of Pervasive Developmental Disorder. Heterozygous females frequently demonstrate both a range of involvement with learning disabilities in math, and social anxiety. The more classical physical and behavioral features of this syndrome are reviewed.

Adolescent↗
PubMed1988

Psychiatric disability in female carriers of the fragile X chromosome.

Fragile X syndrome, an X-linked genetic condition, is an important genetic cause of mental retardation in males. In addition to mental retardation, hemizygous males with fragile X syndrome appear to have a greater likelihood of displaying behaviors classified under the diagnostic category of pervasive developmental disorder than would be expected on the basis of mental retardation alone. Although the majority of female heterozygotes with the fragile X genetic defect are of normal intelligence, our clinical work with this population and a recent case report have suggested that females with fragile X syndrome have an increased rate of schizophrenia spectrum and affective disorders. In this study, the relationship of the fragile X genetic defect to psychopathology in female heterozygotes is investigated by psychiatric evaluation of 35 obligate female carriers of the fragile X chromosome and a comparison group of 24 fragile X-negative controls. Female fragile X carriers were found to have a greater frequency of psychopathology associated with schizophrenia spectrum diagnoses, particularly schizotypal features. A weaker association between the fragile X genetic defect and chronic affective disorders was detected. The specificity of the neuropsychiatric phenotype occurring in particular genetic conditions such as the fragile X syndrome adds a potentially valuable tool to the study of psychopathology in the general population.

Child Development Disorders, Pervasive↗
PubMed1987

Recurrent otitis media in the fragile X syndrome.

Thirty prepubertal boys with fragile X syndrome (fra[X]) were evaluated retrospectively to document the incidence of recurrent otitis media by physician records. The number of documented otitis media infections in the first five years of life was statistically more than those of the normal male siblings and of unrelated, cytogenetically normal controls. Nineteen (63%) of the 30 boys with fra(X) experienced six or more otitis infections. Of the 30 boys with fra(X), 13 (43%) were treated with polyethylene tubes or prophylactic antibiotics for persistent middle ear effusion. Males with fra(X) are at high risk for recurrent ear disease, which may exacerbate the cognitive, language, and behavior problems that exist in this syndrome.

Child↗
PubMed1987

Fragile X syndrome.

The fragile X syndrome is the most common inherited form of mental retardation known. Its phenotype includes large or prominent ears, macroorchidism, and characteristic behavioral problems. It has attracted the interest of cytogeneticists and molecular biologists because of its characteristic fragile site on the X chromosome. It has puzzled geneticists because of its unusual inheritance pattern involving nonpenetrant males. This syndrome has also spearheaded an appreciation of cytogenetic abnormalities in the etiology of all degrees of developmental delay.

Abnormalities, Multiple↗
PubMed1987

Fragile X syndrome.

Explore the source record for details and available documents.

Autistic Disorder↗
PubMed1987

An association between recurrent otitis media in infancy and later hyperactivity.

An association between the frequency of otitis media in early childhood and later hyperactivity is reported in this study. The subjects were 67 children referred to a child development clinic for evaluation of school failure. Ranging from 6 to 13 years old, all the children demonstrated specific school learning problems, and 27 were also considered hyperactive by two or more raters. Sixteen of the hyperactive children were treated with central nervous system stimulant medication. In retrospect, there was positive correlation between an increasing number of otitis media infections in early childhood and the presence and severity of hyperactive behavior. Ninety-four percent of children medicated for hyperactivity had three or more otitis infections, and 69 percent had greater than 10 infections. In comparison, 50 percent of non-hyperactive school-failure patients had three or more infections and 20 percent had greater than 10 infections. Twenty-two of 28 children (79%) known to have more than 10 infections experienced recurrent otitis before 1 year of age.

Adolescent↗
PubMed1986

Autism, mental retardation, and chromosomal abnormalities.

There are reports of sex chromosomal abnormalities including XXY, XYY, and fragile X karyotypes in autistic individuals, but structural autosomal defects have rarely been reported. This paper presents four patients with autism, mental retardation, minor dysmorphic features, and structural autosomal defects. These patients shared autistic features including fascination with inanimate objects, catastrophic reactions to changes in their environment or their daily routine, echolalia, and poor relatedness; IQ scores indicate mild to severe retardation. Their autosomal abnormalities included inversion/duplications of 3p and 16q, 5p+, and 17p-. Parental chromosomes were all normal. Chromosomal analysis should be performed on mentally retarded, autistic individuals, especially those with minor physical anomalies and no specific etiology for their retardation.

Adolescent↗