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R J Hagerman

Publications and source records attributed to R J Hagerman.

97 records · Page 6Linked to original sources
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Cognitive profiles of the carrier fragile X woman.

Cognitive deficits in females with fragile X [fra(X)] syndrome have been reported, but studies have rarely focused on women with normal intelligence, nor have they separated fra(X)-negative carriers from fra(X)-positive carriers. Questions specifically addressed here are: 1) is the degree of fragility predictive of IQ? 2) are cognitive patterns consistent across fragility levels? and 3) do consistent individual profiles exist? These questions were addressed with the help of 74 heterozygous women, 38 of whom were fra(X)-negative carriers. All women completed the WAIS-R, and full-scale IQ was normally distributed (mean = 99.65). A strong inverse relationship between IQ and fragility levels was found. Also, the group of fra(X)-positive women had a significantly different subtest pattern from that of the fra(X)-negative women. However, when results were analyzed individually, no consistent patterns emerged. The cognitive performance of fra(X)-negative carriers has probably been underestimated due to the lack of differentiation between positive and negative carrier females in previous studies. These women appear to be cognitively unimpaired and should be considered separately from fra(X)-positive women. Since consistent WAIS-R patterns are not observable on an individual basis, their use as a diagnostic/predictive tool appears to be inappropriate.

Adolescent↗
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Problem solving limitations among cytogenetically expressing fragile X women.

Neurocognitive deficits among fragile X individuals have been reported for both high and low functioning individuals. Recent findings from our research suggest a specific neurocognitive phenotype among fragile X women that is characterized by deficits on tests of frontal lobe functioning. In this paper, we examine in more detail the performance of 10 cytogenetically expressing women and 10 control women on 2 problem solving measures considered sensitive to frontal lobe functions: the Contingency Naming Test and the Tower of Hanoi. The results pertaining to each test suggest that fragile X women, relative to control women, are less able to solve a problem when the difficulty of the problem is increased by requiring simultaneous consideration of additional information. These findings have important implications for remediation strategies designed for affected fragile X individuals.

Adolescent↗
PubMedDate not supplied

Verbal learning and memory among heterozygous fragile X females.

In this paper we report the results of a brief examination of verbal learning and memory in 20 heterozygous fragile X [fra(X)] positive females and in 2 control groups of 20 subjects each. One control group was composed of fra(X)-negative mothers (obligate carriers) and sisters of male probands with fra(X) syndrome, while the other consisted of 14 head injured and 6 learning disabled females. Intellectual functioning was assessed by means of the Wechsler scales, and learning was assessed by several different clinical memory tests. Significant differences were found between groups on measures of short-term memory and learning efficiency. Groups did not differ on measures of cued recall or delayed recall. The findings are consistent with other data and suggest the possibility that central information processing and/or specific encoding processes are defective in persons with fra(X).

Adolescent↗
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Fragile X syndrome.

Fragile X syndrome is one of the most intriguing genetic conditions now being studied. As the most common inherited form of mental retardation, it has an incidence of approximately 1 in 1000 male infants and boys. Because the cytogenetic diagnosis has only recently been available, many affected boys and female carriers have not yet been identified. This article reviews the characteristic, clinical features of fragile X syndrome and discusses treatment and intervention.

Child↗
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Attention deficit hyperactivity disorder in children: diagnosis, treatment, and follow-up.

Hyperactive, and fidgeting behavior in children, is not a new syndrome, but has been present in children for centuries. Only in recent years have health providers begun to observe these features and behaviors in children and recommend some therapies. Children labeled with Attention Deficit Hyperactivity Disorder (ADHD) display the symptoms of inattention, impulsivity, and hyperactivity; however, these behaviors are seen in a variety of conditions. This article describes some of the symptoms associated with ADHD, as well as the evaluation, therapeutic modalities (behavioral, psychodynamic and pharmacological), and the follow-up of children with ADHD.

Aftercare↗
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Fragile X syndrome in a normal IQ male with learning and emotional problems.

The present case study features an adult male who was diagnosed with fragile X syndrome after the identification of this syndrome in his more affected brother. The patient presented with a Full Scale IQ within the broad range of normal and has been diagnosed with a schizotypal personality disorder. He shows significant deficits in the social and emotional aspects of daily life, but has striking cognitive strengths relating to reading and vocabulary as compared to most males affected with fragile X syndrome. DNA testing of blood leukocytes revealed that he has a fully expanded FMR1 CGG repeat mutation associated with almost complete lack of methylation. Protein studies demonstrate a limited production of FMRP, the protein produced by the FMR1 gene. It is believed that the near absence of methylation of the fully expanded mutation and the resultant expression of the FMR1 protein is responsible for the strong cognitive abilities of this fragile X patient.

Adult↗