Publications by authors named "Patricia Robbins-Furman"

11 Publications

  • Page 1 of 1

Sickle cell disease in Grenada: Quality of life and barriers to care.

Mol Genet Genomic Med 2021 01 17;9(1):e1567. Epub 2020 Dec 17.

School of Allied Health, Baylor College of Medicine, Houston, TX, USA.

Background: Grenada is a small, resource-limited Caribbean country with a high incidence of sickle cell disease (SCD). Since little is known about the challenges facing individuals living with SCD in the West Indies, we sought to assess barriers to healthcare and the impact of SCD on quality of life in Grenada.

Methods: Both adults aged 18+ (n = 19) and caregivers of children aged 2-17 (n = 26) completed validated survey measures regarding barriers to care and quality of life, along with a genetics knowledge questionnaire. Caregivers also completed a caregiver burden scale. Survey scores were calculated, and responses were analyzed for an association between demographic variables.

Results: The Barriers to Care Questionnaire, in which lower scores indicate more barriers, revealed that both adults (mean = 69.9) and children (mean = 75.5) with SCD experienced reduced access to care. The Adult Sickle Cell Quality of Life Measurement Information System indicated increased depression and loneliness in adults, with the lowest scores in the Emotional subscale. However, the Pediatric Quality of Life Inventory answered by caregivers of children with SCD showed the lowest scores in the Physical Functioning subscale. Further analysis using the Caregiver Burden Scale-Zarit Burden Interview revealed that 53.8% of caregivers of children with SCD indicated "little to no burden," which may reflect a difference in cultural expectations of a caregiver between high-income countries and Grenada. Finally, ~80% of respondents knew that SCD was a genetic condition; however, 61%-84% could not correctly indicate recurrence risks, demonstrating a need for additional education.

Conclusion: These data provide new insights regarding the experience of living with SCD in Grenada and support the need for further investigations into specific barriers to healthcare delivery, which could also improve education and well-being for those affected by SCD in Grenada and in the broader Caribbean community.
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http://dx.doi.org/10.1002/mgg3.1567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7963427PMC
January 2021

Stress and well-being among parents of children with Potocki-Lupski syndrome.

J Genet Couns 2013 Oct 25;22(5):633-42. Epub 2013 May 25.

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Medical School at Houston, 6410 Fannin St., Ste. 1217, Houston, TX, USA, 77030,

Potocki-Lupski syndrome (PTLS) or duplication 17p11.2 syndrome is a newly characterized condition causing a variety of health problems with variable severity, including failure to thrive in infancy and childhood, hypotonia, structural heart anomalies, cognitive impairments, speech and learning difficulties, and autism. Due to its recent clinical characterization little is known about the psychosocial impact of this condition on patients and their families. This study evaluated whether parental psychosocial outcomes were associated with children's PTLS disease severity. Parents of 58 children with PTLS completed a cross-sectional survey that assessed parental stress, quality of life, and coping skills. Parental functioning was associated with greater severity of feeding difficulty and with lower severity of a cardiovascular defect. Findings from this study highlight potential support needs of parents of children affected by PTLS and suggest ways in which these needs may be addressed.
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http://dx.doi.org/10.1007/s10897-013-9602-6DOI Listing
October 2013

Cardiovascular findings in duplication 17p11.2 syndrome.

Genet Med 2012 Jan 17;14(1):90-4. Epub 2011 Oct 17.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA.

Purpose: Cardiovascular abnormalities are newly recognized features of duplication 17p11.2 syndrome. In a single-center study, we evaluated subjects with duplication 17p11.2 syndrome for cardiovascular abnormalities.

Methods: Twenty-five subjects with 17p11.2 duplication identified by chromosome analysis and/or array-based comparative genomic hybridization were enrolled in a multidisciplinary protocol. In our clinical evaluation of these subjects, we performed physical examinations, echocardiography, and electrocardiography. Three of these subjects were followed up longitudinally at our institution.

Results: Cardiovascular anomalies, including structural and conduction abnormalities, were identified in 10 of 25 (40%) of subjects with duplication 17p11.2 syndrome. The most frequent abnormality was dilated aortic root (20% of total cohort). Bicommissural aortic valve (2/25), atrial (3/25) and ventricular (2/25) septal defects, and patent foramen ovale (4/25) were also observed.

Conclusion: Duplication 17p11.2 syndrome is associated with structural heart disease, aortopathy, and electrocardiographic abnormalities. Individuals with duplication 17p11.2 syndrome should be evaluated by electrocardiography and echocardiography at the time of diagnosis and monitored for cardiovascular disease over time. Further clinical investigation including longitudinal analysis would likely determine the age of onset and characterize the progression (if any) of vasculopathy in subjects with duplication 17p11.2 syndrome, so that specific guidelines can be established for cardiovascular management.
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http://dx.doi.org/10.1038/gim.0b013e3182329723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666919PMC
January 2012

SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction.

Am J Med Genet A 2011 May 4;155A(5):1165-9. Epub 2011 Apr 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Juvenile polyposis syndrome (JPS) is caused by heterozygous mutations in either SMAD4 or BMPR1A. Individuals with JPS due to mutations in SMAD4 are at greater risk to manifest signs of hereditary hemorrhagic telangiectasia (HHT). HHT is caused by either mutations in SMAD4 or other genes that modulate transforming growth factor-beta (TGFβ) signaling. Additional genes in the TGFβ network include FBN1, TGFBR1, and TGFBR2, mutations of which cause either Marfan syndrome (MFS) or Loeys-Dietz syndrome (LDS), respectively. As SMAD4, FBN1, and TGFBR1/2 map to different regions of the genome, disorders associated with mutations in these genes are not expected to co-segregate in a family. We report an individual whose family history was positive for aortopathy, mitral valve dysfunction, and JPS. Mutation analysis of SMAD4 implicates this gene for these phenotypes in this family. Although SMAD4 is among several genes in the TGFβ network, and although prior single case reports have described large vessel aneurysms in HHT, this is the first description of aortic and mitral disease presenting with JPS. This observation suggests that, in addition to HHT, individuals with SMAD4 mutations may be at risk for aortic dilation and mitral valve dysfunction. We emphasize the importance of comprehensive review of the medical history prior to molecular testing, especially in an asymptomatic patient.
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http://dx.doi.org/10.1002/ajmg.a.33968DOI Listing
May 2011

Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive.

J Pediatr 2011 Apr 17;158(4):655-659.e2. Epub 2010 Dec 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Objective: Failure to thrive (FTT) is a feature of children with Potocki-Lupski syndrome (PTLS) [duplication 17p11.2]. This study was designed to describe the growth characteristics of 24 subjects with PTLS from birth through age 5 years in conjunction with relevant physical features and swallow function studies.

Study Design: We evaluated 24 individuals with PTLS who were ascertained by chromosome analysis and/or array comparative genome hybridization. Clinical assessments included review of medical records, physical examination, otolaryngological examination, and swallow function studies. Measures of height and weight were converted to Z-scores.

Results: The mean weight-for-age and weight-for-length Z-scores at birth were lower (P < .01) than the reference standard and did not change with age. A history of poor feeding, hypotonia, and FTT were reported in 92%, 88%, and 71%, respectively. Individuals with hypotonia had lower weight-for-age and body mass index-for-age Z-scores (P = .01). Swallow function studies demonstrated at least one abnormality in all subjects.

Conclusions: FTT is common in children with PTLS. We hypothesize that oropharyngeal dysphagia and hypotonia likely contribute to FTT in patients with PTLS and recommend that once a diagnosis is established, the individual be assessed for feeding and growth issues and be availed of oromotor therapy and nutritional services.
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http://dx.doi.org/10.1016/j.jpeds.2010.09.062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059370PMC
April 2011

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.

Am J Hum Genet 2010 Mar 25;86(3):462-70. Epub 2010 Feb 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Nonallelic homologous recombination (NAHR) can mediate recurrent rearrangements in the human genome and cause genomic disorders. Smith-Magenis syndrome (SMS) and Potocki-Lupski syndrome (PTLS) are genomic disorders associated with a 3.7 Mb deletion and its reciprocal duplication in 17p11.2, respectively. In addition to these common recurrent rearrangements, an uncommon recurrent 5 Mb SMS-associated deletion has been identified. However, its reciprocal duplication predicted by the NAHR mechanism had not been identified. Here we report the molecular assays on 74 subjects with PTLS-associated duplications, 35 of whom are newly investigated. By both oligonucleotide-based comparative genomic hybridization and recombination hot spot analyses, we identified two cases of the predicted 5 Mb uncommon recurrent PTLS-associated duplication. Interestingly, the crossovers occur in proximity to a recently delineated allelic homologous recombination (AHR) hot spot-associated sequence motif, further documenting the common hot spot features shared between NAHR and AHR. An additional eight subjects with nonrecurrent PTLS duplications were identified. The smallest region of overlap (SRO) for all of the 74 PTLS duplications examined is narrowed to a 125 kb interval containing only RAI1, a gene recently further implicated in autism. Sequence complexities consistent with DNA replication-based mechanisms were identified in four of eight (50%) newly identified nonrecurrent PTLS duplications. Our findings of the uncommon recurrent PTLS-associated duplication at a relative prevalence reflecting the de novo mutation rate and the distribution of 17p11.2 duplication types in PTLS reveal insights into both the contributions of new mutations and the different underlying mechanisms that generate genomic rearrangements causing genomic disorders.
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http://dx.doi.org/10.1016/j.ajhg.2010.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2833368PMC
March 2010

Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty.

Am J Med Genet A 2009 May;149A(5):993-6

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

Various forms of pigmentary dysplasias have been known to be associated with chromosomal mosaicism. One of these disorders, known as phylloid hypomelanosis, has been found to be predominantly associated with abnormalities in chromosome 13. Most of the reported literature involves mosaic trisomy 13 with clinical evidence of abnormal pigmentation in the form of leaf-like or oblong achromic macules following Blaschko's lines. Here, we report on an 8-year-old girl with phylloid hypomelanosis and precocious puberty who was found to have mosaicism for tetrasomy 13q in the form of inverted dup(13)(q21) on her skin fibroblasts as well as peripheral blood karyotype. A higher resolution (244K) chromosomal microarray was done on DNA from skin fibroblasts confirming the breakpoint and gain of distal 13q, which made her tetrasomic for 13q21-qter. This is the first-ever reported association of tetrasomy 13q with phylloid hypomelanosis and precocious puberty. Our report further emphasizes the need to exclude any type of abnormalities of chromosome 13 in patients with phylloid hypopigmentation.
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http://dx.doi.org/10.1002/ajmg.a.32758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3587162PMC
May 2009

Anxiety and prenatal testing: do women with soft ultrasound findings have increased anxiety compared to women with other indications for testing?

Prenat Diagn 2008 Feb;28(2):135-40

University of Texas Houston Medical School, Obstetrics, Gynecology and Reproductive Sciences, Houston, Texas, USA.

Objective: To determine whether there is a difference in anxiety levels in women referred for soft ultrasound findings, AMA, and abnormal serum marker screens, all of whom have a similar risk for chromosome abnormalities, in order to provide an understanding of patients' anxiety, which may enhance the genetic counseling process.

Methods: Two self-administered questionnaires were completed after the genetic counseling session. Participants were recruited from multiple prenatal clinics throughout Houston, Texas. The State-Trait Anxiety Inventory Form Y was used to measure anxiety in study participants. Both state and trait anxiety were assessed. Differences between groups were examined using one-way analysis of variance, crosstabulation, chi-square, and Tukey multiple comparisons analysis. A p-value of < 0.05 was considered significant.

Results: Two hundred fifteen women participated in the study: 124 AMA, 55 abnormal maternal serum screens, and 36 soft ultrasound findings. Our findings revealed that women with soft ultrasound findings and abnormal maternal serum screens had significantly higher state anxiety than women who are AMA. State anxiety in women with soft ultrasound findings was not significantly different from women with abnormal maternal serum screens. No significant difference was found between the three groups for trait anxiety. Perceived risk, decision to undergo amniocentesis, education level, and income were factors that significantly affected the women's anxiety scores. However, none of these factors proved to be successful indicators of state or trait anxiety.

Conclusion: A woman's referral indication is associated with different levels of anxiety as compared to the actual numerical risk for chromosome abnormalities presented during a genetic counseling session.
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http://dx.doi.org/10.1002/pd.1935DOI Listing
February 2008

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.

Am J Hum Genet 2007 Apr 26;80(4):633-49. Epub 2007 Feb 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

The duplication 17p11.2 syndrome, associated with dup(17)(p11.2p11.2), is a recently recognized syndrome of multiple congenital anomalies and mental retardation and is the first predicted reciprocal microduplication syndrome described--the homologous recombination reciprocal of the Smith-Magenis syndrome (SMS) microdeletion (del(17)(p11.2p11.2)). We previously described seven subjects with dup(17)(p11.2p11.2) and noted their relatively mild phenotype compared with that of individuals with SMS. Here, we molecularly analyzed 28 additional patients, using multiple independent assays, and also report the phenotypic characteristics obtained from extensive multidisciplinary clinical study of a subset of these patients. Whereas the majority of subjects (22 of 35) harbor the homologous recombination reciprocal product of the common SMS microdeletion (~3.7 Mb), 13 subjects (~37%) have nonrecurrent duplications ranging in size from 1.3 to 15.2 Mb. Molecular studies suggest potential mechanistic differences between nonrecurrent duplications and nonrecurrent genomic deletions. Clinical features observed in patients with the common dup(17)(p11.2p11.2) are distinct from those seen with SMS and include infantile hypotonia, failure to thrive, mental retardation, autistic features, sleep apnea, and structural cardiovascular anomalies. We narrow the critical region to a 1.3-Mb genomic interval that contains the dosage-sensitive RAI1 gene. Our results refine the critical region for Potocki-Lupski syndrome, provide information to assist in clinical diagnosis and management, and lend further support for the concept that genomic architecture incites genomic instability.
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http://dx.doi.org/10.1086/512864DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852712PMC
April 2007

Racial-ethnic differences in genetic amniocentesis uptake.

J Genet Couns 2005 Jun;14(3):189-95

Genzyme Genetics, Austin, Texas 78628, USA.

The objective of this study was to determine the role of health beliefs in genetic amniocentesis acceptance in a diverse racial-ethnic population. Participants completed a previously-validated questionnaire consisting of three sections: (1) demographics, (2) amniocentesis knowledge, and (3) health beliefs, which assessed perceived susceptibility, seriousness of potential impact, benefits of testing, and barriers to testing. The results showed that Hispanic women were less likely to accept amniocentesis (51.5% vs. Caucasian 82.8%, African American 82.9%, Asian 82.8%). Education level was the only demographic factor higher among acceptors. Women who accepted amniocentesis had higher perceived seriousness, susceptibility, and benefits HBM scores and higher knowledge scores than women who declined. HBM scores and knowledge predicted the amniocentesis decision correctly 91.5% of the time. Individual health beliefs and knowledge play a greater role in genetic amniocentesis acceptance than do demographic factors such as race-ethnicity.
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http://dx.doi.org/10.1007/s10897-005-0641-5DOI Listing
June 2005

Clinical correlates of pain with amniocentesis.

Am J Obstet Gynecol 2004 Aug;191(2):542-5

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Health Science Center at Houston, 6431 Fannin, Houston, TX 77030, USA.

Objective: The purpose of this study was to determine whether sensory or affective dimensions of pain with genetic amniocentesis are associated with identifiable clinical correlates.

Study Design: Women completed the short-form McGill Pain Questionnaire after second-trimester genetic amniocentesis. The effect of maternal weight, parity, previous amniocentesis, previous surgery, history of menstrual cramps, maternal anxiety, presence of fibroid tumors, and depth and location of needle insertion on pain intensity was determined. The T-test, correlation matrix, Kruskal-Wallis test, and multiple logistic regression were used for analysis; a probability value of <.05 was considered significant.

Results: One hundred twenty-one women were enrolled: 19.3% reported no pain, 42.9% described the pain as mild, 31.1% described the pain as discomforting, and 6.7% described the pain as distressing or horrible. Mean intensity of pain was 1.6+/-1.3 (on a scale of 0-7). Pain was most often described as sharp, cramping, fearful, and stabbing. Anxiety and pain were increased in women with an indication of abnormal serum screen as compared with women with advanced maternal age. Anxiety and a history of menstrual cramps were associated with increased affective dimensions of pain and had moderate correlation with quantified pain intensity. A history of previous amniocentesis and needle insertion in the lower one third of the uterus were associated with increased pain. Maternal weight, parity, previous surgery, fibroid tumors, and depth of needle insertion were not correlated with perceived pain. Presence or absence of an accompanying person was not associated with pain intensity.

Conclusion: Women report mild pain or discomfort with genetic amniocentesis. Increased pain is associated with increased maternal anxiety, a history of menstrual cramps, a previous amniocentesis, and insertion of the needle in the lower uterus.
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http://dx.doi.org/10.1016/j.ajog.2004.01.032DOI Listing
August 2004