Ave Maria Lachiewicz

Journal Article J Autism Dev Disord · November 2024 This study was designed to increase our understanding about characteristics and the impact of sensory symptoms (SS) and signs of hyperarousal (HA) in individuals with fragile X syndrome (FXS) from childhood through early adulthood and by gender. Data deriv ... Full text Link to item Cite

Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome.

Journal Article J Autism Dev Disord · February 2024 Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 ... Full text Link to item Cite

Toilet Training in Fragile X Syndrome.

Journal Article J Dev Behav Pediatr · December 2019 OBJECTIVE: To characterize bladder and bowel toileting skill acquisition in children with fragile X syndrome and to identify associated demographic, behavioral, and clinical factors. METHODS: Using baseline data from the Fragile X Online Registry With Acce ... Full text Link to item Cite

Fragile X syndrome: a review of associated medical problems.

Journal Article Pediatrics · November 2014 Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known single-gene cause of autism spectrum disorder. It has been reported that a spectrum of medical problems are commonly experienced ... Full text Link to item Cite

Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.

Journal Article J Autism Dev Disord · July 2012 Animal studies elucidating the neurobiology of fragile X syndrome (FXS) have led to multiple controlled trials in humans, with the Aberrant Behavior Checklist-Community (ABC-C) commonly adopted as a primary outcome measure. A multi-site collaboration exami ... Full text Link to item Cite

Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.

Journal Article J Intellect Disabil Res · July 2010 BACKGROUND: Current research suggests that depression and anxiety may be common problems in women with the fragile X (FMR1) premutation. METHODS: To learn more about this in a clinical setting, we asked 33 women with the FMR1 premutation and 20 women witho ... Full text Link to item Cite

Genetic variants in SLC9A9 are associated with measures of attention-deficit/hyperactivity disorder symptoms in families.

Journal Article Psychiatr Genet · April 2010 Featured Publication OBJECTIVE: A family was previously identified that cosegregates a pericentric inversion, inv(3)(p14 : q21), with an early-onset developmental condition, characterized by impulsive behavior and intellectual deficit. The inversion breakpoints lie within DOCK ... Full text Link to item Cite

Effects of postnatal parental smoking on parent and teacher ratings of ADHD and oppositional symptoms.

Journal Article J Nerv Ment Dis · June 2009 Featured Publication To assess the effects of postnatal parental smoking on subsequent parent and teacher ratings of DSM-IV attention deficit hyperactivity disorder (ADHD) symptoms and oppositional behaviors in children diagnosed with ADHD and their siblings. Children between ... Full text Link to item Cite

Advances in the treatment of fragile X syndrome.

Journal Article Pediatrics · January 2009 The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficul ... Full text Link to item Cite

SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families.

Journal Article Am J Med Genet B Neuropsychiatr Genet · December 5, 2008 Featured Publication Haplotype-tagging SNP analyses were conducted to identify molecular genetic substrates of quantitative phenotypes derived from performance on a Continuous Performance Task (CPT). Three hundred sixty-four individuals were sampled from 152 families ascertain ... Full text Link to item Cite

Epidemiologic support for melanoma heterogeneity using the surveillance, epidemiology, and end results program.

Journal Article J Invest Dermatol · May 2008 Full text Link to item Cite

Survival differences between patients with scalp or neck melanoma and those with melanoma of other sites in the Surveillance, Epidemiology, and End Results (SEER) program.

Journal Article Arch Dermatol · April 2008 OBJECTIVE: To compare the prognosis of patients with scalp or neck (scalp/neck) melanomas with that of patients with melanomas at other sites in a large, population-based national data set controlling for known prognostic factors. DESIGN: Retrospective coh ... Full text Link to item Cite

Living with genetic risk: effect on adolescent self-concept.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2008 Featured Publication The purpose of this study is to describe the interplay of adolescent girls' and young womens' self-concept, coping behaviors, and adjustment associated with knowledge of genetic risk for fragile X syndrome. We will report here findings on self-concept. Usi ... Full text Link to item Cite

Weight and activity change in overweight and obese patients after primary total knee arthroplasty.

Journal Article J Arthroplasty · January 2008 Few studies have examined the effect of primary total knee arthroplasty on the weight and physical activity of overweight and obese patients in the United States. We conducted a prospective study of changes in mean weight, body mass index (BMI), and physic ... Full text Link to item Cite

Epidemiologic support for melanoma heterogeneity using the Surveillance, Epidemiology, and End Results Program.

Journal Article J Invest Dermatol · January 2008 Full text Link to item Cite

Muir-Torre syndrome.

Journal Article Am J Clin Dermatol · 2007 In this case report of Muir-Torre syndrome (MTS), we describe a 47-year-old man with a personal and family history of colon cancer and a personal history of keratoacanthoma who presented with a sebaceous carcinoma and, subsequently, had a cystic sebaceous ... Full text Link to item Cite

Arithmetic difficulties in females with the fragile X premutation.

Journal Article Am J Med Genet A · April 1, 2006 Featured Publication Females with the fragile X full mutation have been reported to have difficulty learning mathematics. Women with the fragile X premutation often give a history of mathematics difficulties in themselves especially with higher level math. In order to evaluate ... Full text Link to item Cite

Carrier testing in fragile X syndrome: when to tell and test.

Journal Article Am J Med Genet · June 1, 2002 Featured Publication This study explored age preferences about when to learn at-risk status and have carrier testing in women who were undergoing testing for fragile X. Forty-two women (20 carriers and 22 noncarriers) completed a structured interview prior to carrier testing a ... Full text Link to item Cite

Longitudinal study of the carrier testing process for fragile X syndrome: perceptions and coping.

Journal Article Am J Med Genet · January 1, 2001 This paper reports the results of a longitudinal study of women at-risk to inherit the fragile X mutation. It addresses 1) how upsetting the women perceived their carrier information to be, 2) how serious a problem they perceive fragile X syndrome to be, a ... Link to item Cite

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.

Journal Article Am J Med Genet · September 18, 2000 Fragile X syndrome normally arises as a consequence of large expansions (n >200) of a (CGG)(n) trinucleotide repeat in the promoter region of the FMR1 gene. The clinical phenotype is thought to result from hypermethylation of the repeat and adjacent upstre ... Full text Link to item Cite

Carrier testing in fragile X syndrome: effect on self-concept.

Journal Article Am J Med Genet · June 19, 2000 The purpose of the study was to explore self-concept in women at risk for inheriting the fragile X mutation. Time 1 measures were obtained prior to carrier testing and Time 2 measures were collected approximately 5 months after learning carrier status. The ... Full text Link to item Cite

Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males.

Journal Article Am J Med Genet · June 5, 2000 Fragile X syndrome is the leading form of hereditary mental retardation, but the condition is still underdiagnosed in young children. Because of concern that the fragile X phenotype is subtle in young boys and therefore contributes to underdiagnosis of the ... Full text Link to item Cite

Parental attitudes regarding carrier testing in children at risk for fragile X syndrome.

Journal Article Am J Med Genet · January 29, 1999 Sixty-five parents of individuals affected by fragile X syndrome who attended the National Fragile X Conference in Portland, Oregon (1996), were asked to complete a survey assessing parental level of concern about carrier testing in children at risk for fr ... Link to item Cite

Ocular status of boys with fragile X syndrome: a prospective study.

Journal Article J AAPOS · October 1998 PURPOSE: The purpose of this study was to determine whether the high rates of ocular problems described in previous retrospective reports of individuals with fragile X syndrome were present in a prospective sample of young boys. Fragile X syndrome is curre ... Full text Link to item Cite

Carrier testing in the fragile X syndrome: attitudes and opinions of obligate carriers.

Journal Article Am J Med Genet · January 10, 1997 This study surveyed obligate carriers of the fragile X syndrome fra(X) to ascertain opinions and attitudes regarding carrier testing. Female carriers of fra(X) syndrome were recruited during their visits to the Fragile X Clinic at Duke University Medical C ... Full text Link to item Cite

A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene.

Journal Article Am J Med Genet · August 9, 1996 Fragile X DNA studies were carried out on all obligate carriers of a large fragile X family with 10 mentally retarded individuals. One 64-year-old carrier man with an altered FMR-1 allele was not described as being mentally retarded or as having any limita ... Full text Link to item Cite

Trajectories and profiles of adaptive behavior in males with fragile X syndrome: multicenter studies.

Journal Article J Autism Dev Disord · June 1996 We conducted two multicenter studies on adaptive trajectories and profiles in males with fragile X syndrome. Study 1 longitudinally assessed 29 males ages 1-20 years using age-equivalent scores from the Vineland Adaptive Behavior Scales. Fragile X boys age ... Full text Link to item Cite

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

Journal Article Am J Med Genet · December 4, 1995 Five patients presenting with non-ketotic hyperglycinemia in the neonatal period were treated with sodium benzoate to normalize plasma glycine levels. This therapy resulted in seizure reduction and a marked increase in wakefulness. Plasma carnitine deficie ... Full text Link to item Cite

Psychological and emotional studies of the fragile X mutation. A workshop summary

Journal Article Developmental Brain Dysfunction · December 1, 1995 The aims of the workshop on which this summary is based were to convey basic information on the nature of psychological studies in general, and to review the methods and findings from some recent studies of psychological effects associated with the fragile ... Cite

BEHAVIORAL EPIDEMIOLOGY OF FRAGILE-X SYNDROME IN FEMALE PEDIATRIC POPULATIONS

Conference AMERICAN JOURNAL OF EPIDEMIOLOGY · June 1, 1995 Link to item Cite

Females with fragile X syndrome: A review of the effects of an abnormal FMR1 gene

Journal Article Mental Retardation and Developmental Disabilities Research Reviews · January 1, 1995 In 1980, Turner et al. described a sample of females affected with fragile X syndrome and recommended that all females with mental retardation of unknown etiology be evaluated for this condition. Since then, much has been learned about fragile X syndrome a ... Full text Cite

Behavior problems of young girls with fragile X syndrome: factor scores on the Conners' Parent's Questionnaire.

Journal Article Am J Med Genet · July 15, 1994 Mothers of 60 girls with fragile X [fra(X)] and 58 controls were asked to fill out the Conners' Parent's Questionnaire to determine if this commonly used checklist would detect behavior problems in young girls with fra(X). The mean T-scores were significan ... Full text Link to item Cite

Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.

Journal Article Am J Med Genet · July 15, 1994 A 2-year-old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27-q28 including deletion of FMR-1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2( ... Full text Link to item Cite

Do young boys with fragile X syndrome have macroorchidism?

Journal Article Pediatrics · June 1994 OBJECTIVE: Macroorchidism is one of the most well-described clinical characteristics of men with fragile X syndrome, but little information has been available regarding macroorchidism in prepubertal boys with fragile X. The purpose of this study was to lea ... Link to item Cite

DO YOUNG BOYS WITH FRAGILE-X-SYNDROME HAVE MACROORCHIDISM

Journal Article PEDIATRICS · June 1, 1994 Link to item Cite

AUTISTIC BEHAVIORS OF YOUNG GIRLS WITH FRAGILE X-SYNDROME

Conference PEDIATRIC RESEARCH · April 1, 1994 Link to item Cite

Aberrant behaviors of young boys with fragile X syndrome.

Journal Article Am J Ment Retard · March 1994 To determine whether aberrant behaviors described in boys with fragile X syndrome distinguish them from other boys with developmental disabilities, we asked the primary caregivers of 55 boys with fragile X and 57 matched controls to complete five behaviora ... Link to item Cite

Do young boys with fragile X syndrome have macroorchidism?

Journal Article Pediatrics · January 1, 1994 Objective. Macroorchidism is one of the most well-described clinical characteristics of men with fragile X syndrome, but little information has been available regarding macroorchidism in prepubertal boys with fragile X. The purpose of this study was to lea ... Cite

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype.

Journal Article Hum Mol Genet · November 1993 Full text Link to item Cite

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

Journal Article Am J Hum Genet · October 1993 DNA at the FMR-1 locus was analyzed by Southern blot using probe StB12.3 in an unusual fragile X family with six brothers, three of whom are affected with fragile X to varying degrees, two of whom are nonpenetrant carriers, and one of whom is unaffected. F ... Link to item Cite

Abnormal behaviors of young girls with fragile X syndrome.

Journal Article Am J Med Genet · April 15, 1992 Mothers of 38 young girls with fragile X [fra (X)] between the ages of 4 and 11 years filled out the Child Behavior Checklist. Forty-seven percent of the girls had T scores greater than 70 on the hyperactive and social withdrawal scales. Between 26% and 15 ... Full text Link to item Cite

Brief screening questionnaire for determining affected state in fragile X syndrome: a consensus recommendation.

Journal Article Am J Med Genet · April 15, 1992 New molecular research has provided strong evidence for different forms of the fragile X mutation. These findings suggest the need to develop a more standardized and sensitive method for determining neurobehavioral effects of the fragile X gene(s), particu ... Full text Link to item Cite

PHYSICAL CHARACTERISTICS OF YOUNG BOYS WITH FRAGILE-X SYNDROME

Conference 1992 INTERNATIONAL FRAGILE X CONFERENCE PROCEEDINGS · January 1, 1992 Link to item Cite

Association of the Robin sequence with the fragile X syndrome.

Journal Article Am J Med Genet · December 1, 1991 We report on 4 individuals with the fragile X [fra(X)] syndrome and the Robin sequence (or elements of that sequence). To our knowledge, this association has been described in only one other boy. However, males with the fra(X) syndrome have been reported t ... Full text Link to item Cite

Townes-Brocks syndrome in two mentally retarded youngsters.

Journal Article Am J Med Genet · October 1, 1991 We report on 2 children with Townes-Brocks syndrome (TBS) and mental retardation. One child had mild hearing loss, but the other only had hearing loss at 8000 Hz. These cases suggest that there may be an increased incidence of mental retardation in individ ... Full text Link to item Cite

ABERRANT BEHAVIORS OF YOUNG BOYS WITH FRAGILE X-SYNDROME

Conference PEDIATRIC RESEARCH · April 1, 1990 Link to item Cite

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

Journal Article J Am Acad Child Adolesc Psychiatry · March 1990 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 ... Full text Link to item Cite

FRAGILE-X SYNDROME - A HANDBOOK FOR FAMILIES AND EDUCATORS - FINUCANE,B

Journal Article JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS · December 1, 1989 Link to item Cite

What is the fragile X syndrome?

Journal Article N C Med J · April 1988 Link to item Cite

Declining IQs of young males with the fragile X syndrome.

Journal Article Am J Ment Retard · November 1987 Retrospective, longitudinal data were obtained on 21 boys with the fragile X syndrome to assess whether their IQs declined during childhood. For the group as a whole, IQs dropped significantly; 13 boys showed a significant decline at retest. Our results ar ... Link to item Cite