Jennifer Sullivan - Academia.edu (original) (raw)
Papers by Jennifer Sullivan
American Journal of Psychiatry, Oct 8, 2014
Journal of genetic counseling, Jan 12, 2016
Due to the lack of empirical information on parental perceptions of primary results of whole exom... more Due to the lack of empirical information on parental perceptions of primary results of whole exome sequencing (WES), we conducted a retrospective semi-structured interview with 19 parents of children who had undergone WES. Perceptions explored during the interview included factors that would contribute to parental empowerment such as: parental expectations, understanding of the WES and results, utilization of the WES information, and communication of findings to health/educational professionals and family members. Results of the WES had previously been communicated to families within a novel framework of clinical diagnostic categories: 5/19 had Definite diagnoses, 6/19 had Likely diagnoses, 3/19 had Possible diagnosis and 5/19 had No diagnosis. All parents interviewed expressed a sense of duty to pursue the WES in search of a diagnosis; however, their expectations were tempered by previous experiences with negative genetic testing results. Approximately half the parents worried that...
Journal of Inherited Metabolic Disease, Aug 20, 2007
Fructose-1,6-bisphosphatase (FBPase) deficiency (OMIM 229700) has been characterized as the cause... more Fructose-1,6-bisphosphatase (FBPase) deficiency (OMIM 229700) has been characterized as the cause of life-threatening hypoglycaemia and lactic acidaemia following prolonged fasting. The patient, an adult African-American woman, presented during the second trimester of her first pregnancy with recurrent episodes of lactic acidaemia and hypoglycaemia. She had recently been admitted to a nearby intensive care unit after presentation with profound hypoglycaemia and lactic acidosis, and was found to be pregnant. The history was remarkable for approximately 30 hospitalizations for hypoglycaemia and acidosis. She had previously undergone liver biopsy at another centre and was diagnosed with a 'glycogen storage disease', although no enzyme testing had been done for confirmation. Based on clinical symptoms, a diagnosis of FBPase deficiency was accomplished through gene sequencing, which revealed homozygosity for a panethnic, common mutation, 960/961insG in exon 7. The availability of mutation testing facilitated the confirmation of FBPase deficiency in this patient, obviating liver biopsy for enzyme activity confirmation. The patient underwent three successful pregnancies by strict compliance with dietary management, including nocturnal uncooked cornstarch to manage hypoglycaemia. The pregnancies were complicated by mild gestational diabetes, increased cornstarch requirements, and hypoglycaemia at the time of discharge from the hospital. The three infants had normal birth weights and experienced no complications during the neonatal period. The patient subsequently developed sensorineural hearing loss and early-onset cognitive impairment, despite compliance with the monitoring and treatment of hypoglycaemia. The experience with multiple pregnancies in this FBPase-deficient patient provides insight into the management of hypoglycaemia in inherited disorders of gluconeogenesis.
Lysosomal Storage Disorders, 2007
In many ways, the role of the genetic counselor working with patients and families with a lysosom... more In many ways, the role of the genetic counselor working with patients and families with a lysosomal storage disease is similar to a counselor in other pediatric and adult counseling situations. The goals of counseling; education, access to health care, and supportive ...
The Lancet, 1999
1. Lancet. 1999 Mar 27;353(9158):1064-5. Cholinergic therapy for Down's syndrome. Kishnani P... more 1. Lancet. 1999 Mar 27;353(9158):1064-5. Cholinergic therapy for Down's syndrome. Kishnani PS, Sullivan JA, Walter BK, Spiridigliozzi GA, Doraiswamy PM, Krishnan KR. PMID: 10199357 [PubMed - indexed for MEDLINE]. ...
Journal of Inherited Metabolic Disease, 2000
Archives of Neurology, 2004
... 4. Prasad AS, Brewer GJ, Schoomaker EB, Rabbini P. Hypocupremia induced by zinc therapy in ad... more ... 4. Prasad AS, Brewer GJ, Schoomaker EB, Rabbini P. Hypocupremia induced by zinc therapy in adults. JAMA. 1978;240:2166-2168. ... Am J Psychiatry. 2001;158: 143. 6. Heller JH, Spiridigliozzi GA, Sullivan JA, Doraiswamy PM, Krishnan RR, Kish-nani PS. ...
American Journal of Medical Genetics, 2000
The purpose of the study was to explore self-concept in women at risk for inheriting the fragile ... more 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 sample consisted of 42 women from 17 families. Measures included the Tennessee Self-Concept Scale (TSCS), the fragile X Visual Analog Scale (VAS), and a structured interview. The TSCS provided a global measure of self-concept and the fragile X VAS and structured interview provided a contextual measure of self related to carrier status. Results indicated that there were no differences initially between carriers and noncarriers and no change from Time 1 to Time 2 on the TSCS. Analysis of the Time 1 fragile X VAS means for the total sample found a reduction in positive feelings about self. Analysis of the Time 2 fragile X VAS found that noncarriers reported improvement in feelings about self, with no change in feelings about self found in the carriers. Responses from the structured interview indicated that the feelings regarding self in the context of genetic testing are not related to global self-concept, but result from concerns regarding the implications of a positive carrier test for themselves and their families. This information highlights areas related to carrier testing that warrant further investigation and may ultimately result in modifications to the genetic counseling.
American Journal of Medical Genetics, 2002
This study explored age preferences about when to learn at-risk status and have carrier testing i... more 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 and after learning their result. The majority favored learning at-risk status and carrier status at < 18 years for themselves and their children. Preferred ages fell into four developmental categories: early childhood (0-9), preteen (10-13), teen (14-17), and adult ( 18). Although no significant mean changes in age responses were found between interviews or between carrier and noncarrier responses, a difference in the pattern of responses related to age categories was suggested. There appeared to be an increase in the number of responses in the 0-9 category at time 2. Also, the mean ages for testing were older than they were for telling at time 1, but not at time 2. For women indicating ages 0-9, the most frequent reason was to provide children with time to adjust. Those reporting ages 10-13 felt that the onset of puberty as well as a child's ability to understand, adjust, and cope were key determinants. Those preferring the teen years felt the possibility of sexual activity and planning for the future were important considerations. The developmental focus for adults was serious relationships. This study, through its unique longitudinal perspective of transition from uncertainty to certainty, builds on prior knowledge, has implications for genetic counseling, and suggests that the developmental stage of the child is important in determining when to tell and test.
American Journal of Medical Genetics, 2001
This paper reports the results of a longitudinal study of women at-risk to inherit the fragile X ... more 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, and 3) descriptions of feelings about the carrier testing process. The study sample consisted of 42 women (20 carriers and 22 noncarriers). There were two measurement times (just prior to carrier testing and after learning actual carrier status). The measures used were a Fragile X Visual Analog Scale and a structured interview. At time 1, being at-risk was reported to be upsetting and fragile X syndrome was perceived to be a serious problem. For the women found to be carriers there was no change from time 1 to time 2 on any of the items. Significant change occurred in the non-carriers. They were significantly less upset at time 2 after receiving the results of their carrier test than at time 1. They also perceived fragile X syndrome to be a more serious problem than they did at time 1 and a more serious problem than the carriers at time 2. Themes found included concerns that carrier status for fragile X syndrome presented a barrier for having healthy biological children and concern for children's and grandchildren's adaptation to their own carrier status. Coping behaviors were activated to manage the emotions related to these concerns. The coping behaviors identified were minimization, acceptance of the possibility of being a carrier, a sense of being able to deal with the outcome of the carrier test, positive comparison, problem solving, and positive interpretation.
American Journal of Medical Genetics, 2003
At present, there is no proven pharmacologic treatment for cognitive or language impairments in D... more At present, there is no proven pharmacologic treatment for cognitive or language impairments in Down syndrome (DS). Cholinergic deficits have been documented in DS and linked to cognitive deficits. This study is a 24week open-label clinical trial of donepezil hydrochloride for the treatment of language deficits in adults with DS. To our knowledge, this is the first prospective study to evaluate systematically the effects of donepezil, a cholinesterase inhibitor, on specific language domains in DS. The main finding that emerged was an improvement in expressive language performance following donepezil therapy. Despite the multiple methodological limitations, the results raise important questions regarding the role of the cholinergic system in language function and the specific effect of cholinergic therapy in the treatment of language impairment in DS. The results support the need for large-scale controlled studies of the effects of donepezil treatment on language and on other cognitive domains in DS. ß
American Journal of Medical Genetics, 1999
Sixty-five parents of individuals affected by fragile X syndrome who attended the National Fragil... more 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 fragile X syndrome. All subjects completed a 15-item paper and pencil Likert response scale measure that was developed specifically for this study. The items included parental rights and duties, psychological adjustment, adaptation, discrimination, harm, childbearing, and interpersonal relationships. The major concern of the parents was that their children have knowledge of their carrier status prior to becoming sexually active and that their children be able to marry informed of their genetic risk. Mothers were significantly more concerned than fathers about raising their children with the knowledge of their carrier status. A sense of parental right to make the decision regarding carrier testing for children was associated with concerns about (1) behavioral or educational problems, (2) knowledge of carrier status prior to sexual activity or marriage, and (3) adjustment of the children to knowledge of their carrier status. As the sample was drawn from a unique population of parents, the results of this survey should be interpreted with caution. The findings of this study suggest a model of parents providing anticipatory guidance for their children to help them adjust to carrier information and for their children to have this knowledge prior to the possibility of reproduction.
American Journal of Medical Genetics, 2004
The Journal of Urology, 2010
Patients with type Ia glycogen storage disease have an increased recurrent nephrolithiasis rate. ... more Patients with type Ia glycogen storage disease have an increased recurrent nephrolithiasis rate. We identified stone forming risk factors in patients with type Ia glycogen storage disease vs those in stone formers without the disease. Patients with type Ia glycogen storage disease were prospectively enrolled from our metabolic clinic. Patient 24-hour urine parameters were compared to those in age and gender matched stone forming controls. We collected 24-hour urine samples from 13 patients with type Ia glycogen storage disease. Average +/- SD age was 27.0 +/- 13.0 years and 6 patients (46%) were male. Compared to age and gender matched hypocitraturic, stone forming controls patients had profound hypocitraturia (urinary citrate 70 vs 344 mg daily, p = 0.009). When comparing creatinine adjusted urinary values, patients had profound hypocitraturia (0.119 vs 0.291 mg/mg creatinine, p = 0.005) and higher oxalate (0.026 vs 0.021 mg/mg creatinine, p = 0.038) vs other stone formers. Patients with type Ia glycogen storage disease have profound hypocitraturia, as evidenced by 24-hour urine collections, even compared to other stone formers. This may be related to a recurrent nephrolithiasis rate greater than in the overall population. These findings may be used to support different treatment modalities, timing and/or doses to prevent urinary lithiasis in patients with type Ia glycogen storage disease.
Prenatal Diagnosis, May 1, 2002
JIMD reports, 2015
Neuronopathic Gaucher disease can present as a continuum of clinical findings, including somatic ... more Neuronopathic Gaucher disease can present as a continuum of clinical findings, including somatic symptoms of anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as well as neurologic sequelae. There is a spectrum of neurologic symptoms ranging from oculomotor apraxia to severe convulsions. The heterozygosity of phenotypes makes it difficult to predict the disease course. We describe an 8-year-old male with neuronopathic type III Gaucher disease who developed bladder dysfunction and was unable to completely void. He also presented with hypertension and acute renal insufficiency, most likely secondary to urinary retention. A complete evaluation was done for causes of urinary retention and bladder dysfunction. A renal bladder ultrasound demonstrated marked hydroureteronephrosis. There was no clinical evidence of infection and cystoscopy revealed no anatomic obstruction. In addition, MRI showed no spinal abnormalities. His bladder dysfunction was managed operatively by creati...
The Journal of Urology, 2010
Patients with type Ia glycogen storage disease have an increased recurrent nephrolithiasis rate. ... more Patients with type Ia glycogen storage disease have an increased recurrent nephrolithiasis rate. We identified stone forming risk factors in patients with type Ia glycogen storage disease vs those in stone formers without the disease. Patients with type Ia glycogen storage disease were prospectively enrolled from our metabolic clinic. Patient 24-hour urine parameters were compared to those in age and gender matched stone forming controls. We collected 24-hour urine samples from 13 patients with type Ia glycogen storage disease. Average +/- SD age was 27.0 +/- 13.0 years and 6 patients (46%) were male. Compared to age and gender matched hypocitraturic, stone forming controls patients had profound hypocitraturia (urinary citrate 70 vs 344 mg daily, p = 0.009). When comparing creatinine adjusted urinary values, patients had profound hypocitraturia (0.119 vs 0.291 mg/mg creatinine, p = 0.005) and higher oxalate (0.026 vs 0.021 mg/mg creatinine, p = 0.038) vs other stone formers. Patients with type Ia glycogen storage disease have profound hypocitraturia, as evidenced by 24-hour urine collections, even compared to other stone formers. This may be related to a recurrent nephrolithiasis rate greater than in the overall population. These findings may be used to support different treatment modalities, timing and/or doses to prevent urinary lithiasis in patients with type Ia glycogen storage disease.
Journal of Inherited Metabolic Disease, 2005
We present a series of 8 patients (6 males, 2 females) with hepatocellular carcinoma (HCC) and gl... more We present a series of 8 patients (6 males, 2 females) with hepatocellular carcinoma (HCC) and glycogen storage disease type Ia (GSD Ia). In this group, the age at which treatment was initiated ranged from birth to 39 years (mean 9.9 years). All patients but one were noncompliant with treatment. Hepatic masses were first detected at an age range of 13-45 years (mean 28.1 years). Age at diagnosis of HCC ranged from 19 to 49 years (mean 36.9 years). Duration between the diagnosis of liver adenomas and the diagnosis of HCC ranged from 0 to 28 years (mean 8.8 years, SD = 11.5). Two patients had positive hepatitis serologies (one hepatitis B, one hepatitis C). Alpha-fetoprotein (AFP) was normal in 6 of the 8 patients. Carcinoembryonic antigen (CEA) was normal in the 5 patients in which it was measured. Current guidelines recommend abdominal ultrasonography with AFP and CEA levels every 3 months once patients develop hepatic lesions. Abdominal CT or MRI is advised when the lesions are large or poorly defined or are growing larger. We question the reliability of AFP and CEA as markers for HCC in GSD Ia. Aggressive interventional management of masses with rapid growth or poorly defined margins may be necessary to prevent the development of HCC in this patient population.
Genetics in Medicine, 2001
The cell line used to generate the enzyme (rhGAA) used in this clinical trial was constructed in ... more The cell line used to generate the enzyme (rhGAA) used in this clinical trial was constructed in Dr. Y.-T. Chen&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#x27;s laboratory at Duke University, and subsequently, Duke licensed the cell line and technology to Synpac (North Carolina), Inc., who provided the GMP-grade rhGAA ...
American Journal of Psychiatry, Oct 8, 2014
Journal of genetic counseling, Jan 12, 2016
Due to the lack of empirical information on parental perceptions of primary results of whole exom... more Due to the lack of empirical information on parental perceptions of primary results of whole exome sequencing (WES), we conducted a retrospective semi-structured interview with 19 parents of children who had undergone WES. Perceptions explored during the interview included factors that would contribute to parental empowerment such as: parental expectations, understanding of the WES and results, utilization of the WES information, and communication of findings to health/educational professionals and family members. Results of the WES had previously been communicated to families within a novel framework of clinical diagnostic categories: 5/19 had Definite diagnoses, 6/19 had Likely diagnoses, 3/19 had Possible diagnosis and 5/19 had No diagnosis. All parents interviewed expressed a sense of duty to pursue the WES in search of a diagnosis; however, their expectations were tempered by previous experiences with negative genetic testing results. Approximately half the parents worried that...
Journal of Inherited Metabolic Disease, Aug 20, 2007
Fructose-1,6-bisphosphatase (FBPase) deficiency (OMIM 229700) has been characterized as the cause... more Fructose-1,6-bisphosphatase (FBPase) deficiency (OMIM 229700) has been characterized as the cause of life-threatening hypoglycaemia and lactic acidaemia following prolonged fasting. The patient, an adult African-American woman, presented during the second trimester of her first pregnancy with recurrent episodes of lactic acidaemia and hypoglycaemia. She had recently been admitted to a nearby intensive care unit after presentation with profound hypoglycaemia and lactic acidosis, and was found to be pregnant. The history was remarkable for approximately 30 hospitalizations for hypoglycaemia and acidosis. She had previously undergone liver biopsy at another centre and was diagnosed with a 'glycogen storage disease', although no enzyme testing had been done for confirmation. Based on clinical symptoms, a diagnosis of FBPase deficiency was accomplished through gene sequencing, which revealed homozygosity for a panethnic, common mutation, 960/961insG in exon 7. The availability of mutation testing facilitated the confirmation of FBPase deficiency in this patient, obviating liver biopsy for enzyme activity confirmation. The patient underwent three successful pregnancies by strict compliance with dietary management, including nocturnal uncooked cornstarch to manage hypoglycaemia. The pregnancies were complicated by mild gestational diabetes, increased cornstarch requirements, and hypoglycaemia at the time of discharge from the hospital. The three infants had normal birth weights and experienced no complications during the neonatal period. The patient subsequently developed sensorineural hearing loss and early-onset cognitive impairment, despite compliance with the monitoring and treatment of hypoglycaemia. The experience with multiple pregnancies in this FBPase-deficient patient provides insight into the management of hypoglycaemia in inherited disorders of gluconeogenesis.
Lysosomal Storage Disorders, 2007
In many ways, the role of the genetic counselor working with patients and families with a lysosom... more In many ways, the role of the genetic counselor working with patients and families with a lysosomal storage disease is similar to a counselor in other pediatric and adult counseling situations. The goals of counseling; education, access to health care, and supportive ...
The Lancet, 1999
1. Lancet. 1999 Mar 27;353(9158):1064-5. Cholinergic therapy for Down's syndrome. Kishnani P... more 1. Lancet. 1999 Mar 27;353(9158):1064-5. Cholinergic therapy for Down's syndrome. Kishnani PS, Sullivan JA, Walter BK, Spiridigliozzi GA, Doraiswamy PM, Krishnan KR. PMID: 10199357 [PubMed - indexed for MEDLINE]. ...
Journal of Inherited Metabolic Disease, 2000
Archives of Neurology, 2004
... 4. Prasad AS, Brewer GJ, Schoomaker EB, Rabbini P. Hypocupremia induced by zinc therapy in ad... more ... 4. Prasad AS, Brewer GJ, Schoomaker EB, Rabbini P. Hypocupremia induced by zinc therapy in adults. JAMA. 1978;240:2166-2168. ... Am J Psychiatry. 2001;158: 143. 6. Heller JH, Spiridigliozzi GA, Sullivan JA, Doraiswamy PM, Krishnan RR, Kish-nani PS. ...
American Journal of Medical Genetics, 2000
The purpose of the study was to explore self-concept in women at risk for inheriting the fragile ... more 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 sample consisted of 42 women from 17 families. Measures included the Tennessee Self-Concept Scale (TSCS), the fragile X Visual Analog Scale (VAS), and a structured interview. The TSCS provided a global measure of self-concept and the fragile X VAS and structured interview provided a contextual measure of self related to carrier status. Results indicated that there were no differences initially between carriers and noncarriers and no change from Time 1 to Time 2 on the TSCS. Analysis of the Time 1 fragile X VAS means for the total sample found a reduction in positive feelings about self. Analysis of the Time 2 fragile X VAS found that noncarriers reported improvement in feelings about self, with no change in feelings about self found in the carriers. Responses from the structured interview indicated that the feelings regarding self in the context of genetic testing are not related to global self-concept, but result from concerns regarding the implications of a positive carrier test for themselves and their families. This information highlights areas related to carrier testing that warrant further investigation and may ultimately result in modifications to the genetic counseling.
American Journal of Medical Genetics, 2002
This study explored age preferences about when to learn at-risk status and have carrier testing i... more 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 and after learning their result. The majority favored learning at-risk status and carrier status at < 18 years for themselves and their children. Preferred ages fell into four developmental categories: early childhood (0-9), preteen (10-13), teen (14-17), and adult ( 18). Although no significant mean changes in age responses were found between interviews or between carrier and noncarrier responses, a difference in the pattern of responses related to age categories was suggested. There appeared to be an increase in the number of responses in the 0-9 category at time 2. Also, the mean ages for testing were older than they were for telling at time 1, but not at time 2. For women indicating ages 0-9, the most frequent reason was to provide children with time to adjust. Those reporting ages 10-13 felt that the onset of puberty as well as a child's ability to understand, adjust, and cope were key determinants. Those preferring the teen years felt the possibility of sexual activity and planning for the future were important considerations. The developmental focus for adults was serious relationships. This study, through its unique longitudinal perspective of transition from uncertainty to certainty, builds on prior knowledge, has implications for genetic counseling, and suggests that the developmental stage of the child is important in determining when to tell and test.
American Journal of Medical Genetics, 2001
This paper reports the results of a longitudinal study of women at-risk to inherit the fragile X ... more 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, and 3) descriptions of feelings about the carrier testing process. The study sample consisted of 42 women (20 carriers and 22 noncarriers). There were two measurement times (just prior to carrier testing and after learning actual carrier status). The measures used were a Fragile X Visual Analog Scale and a structured interview. At time 1, being at-risk was reported to be upsetting and fragile X syndrome was perceived to be a serious problem. For the women found to be carriers there was no change from time 1 to time 2 on any of the items. Significant change occurred in the non-carriers. They were significantly less upset at time 2 after receiving the results of their carrier test than at time 1. They also perceived fragile X syndrome to be a more serious problem than they did at time 1 and a more serious problem than the carriers at time 2. Themes found included concerns that carrier status for fragile X syndrome presented a barrier for having healthy biological children and concern for children's and grandchildren's adaptation to their own carrier status. Coping behaviors were activated to manage the emotions related to these concerns. The coping behaviors identified were minimization, acceptance of the possibility of being a carrier, a sense of being able to deal with the outcome of the carrier test, positive comparison, problem solving, and positive interpretation.
American Journal of Medical Genetics, 2003
At present, there is no proven pharmacologic treatment for cognitive or language impairments in D... more At present, there is no proven pharmacologic treatment for cognitive or language impairments in Down syndrome (DS). Cholinergic deficits have been documented in DS and linked to cognitive deficits. This study is a 24week open-label clinical trial of donepezil hydrochloride for the treatment of language deficits in adults with DS. To our knowledge, this is the first prospective study to evaluate systematically the effects of donepezil, a cholinesterase inhibitor, on specific language domains in DS. The main finding that emerged was an improvement in expressive language performance following donepezil therapy. Despite the multiple methodological limitations, the results raise important questions regarding the role of the cholinergic system in language function and the specific effect of cholinergic therapy in the treatment of language impairment in DS. The results support the need for large-scale controlled studies of the effects of donepezil treatment on language and on other cognitive domains in DS. ß
American Journal of Medical Genetics, 1999
Sixty-five parents of individuals affected by fragile X syndrome who attended the National Fragil... more 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 fragile X syndrome. All subjects completed a 15-item paper and pencil Likert response scale measure that was developed specifically for this study. The items included parental rights and duties, psychological adjustment, adaptation, discrimination, harm, childbearing, and interpersonal relationships. The major concern of the parents was that their children have knowledge of their carrier status prior to becoming sexually active and that their children be able to marry informed of their genetic risk. Mothers were significantly more concerned than fathers about raising their children with the knowledge of their carrier status. A sense of parental right to make the decision regarding carrier testing for children was associated with concerns about (1) behavioral or educational problems, (2) knowledge of carrier status prior to sexual activity or marriage, and (3) adjustment of the children to knowledge of their carrier status. As the sample was drawn from a unique population of parents, the results of this survey should be interpreted with caution. The findings of this study suggest a model of parents providing anticipatory guidance for their children to help them adjust to carrier information and for their children to have this knowledge prior to the possibility of reproduction.
American Journal of Medical Genetics, 2004
The Journal of Urology, 2010
Patients with type Ia glycogen storage disease have an increased recurrent nephrolithiasis rate. ... more Patients with type Ia glycogen storage disease have an increased recurrent nephrolithiasis rate. We identified stone forming risk factors in patients with type Ia glycogen storage disease vs those in stone formers without the disease. Patients with type Ia glycogen storage disease were prospectively enrolled from our metabolic clinic. Patient 24-hour urine parameters were compared to those in age and gender matched stone forming controls. We collected 24-hour urine samples from 13 patients with type Ia glycogen storage disease. Average +/- SD age was 27.0 +/- 13.0 years and 6 patients (46%) were male. Compared to age and gender matched hypocitraturic, stone forming controls patients had profound hypocitraturia (urinary citrate 70 vs 344 mg daily, p = 0.009). When comparing creatinine adjusted urinary values, patients had profound hypocitraturia (0.119 vs 0.291 mg/mg creatinine, p = 0.005) and higher oxalate (0.026 vs 0.021 mg/mg creatinine, p = 0.038) vs other stone formers. Patients with type Ia glycogen storage disease have profound hypocitraturia, as evidenced by 24-hour urine collections, even compared to other stone formers. This may be related to a recurrent nephrolithiasis rate greater than in the overall population. These findings may be used to support different treatment modalities, timing and/or doses to prevent urinary lithiasis in patients with type Ia glycogen storage disease.
Prenatal Diagnosis, May 1, 2002
JIMD reports, 2015
Neuronopathic Gaucher disease can present as a continuum of clinical findings, including somatic ... more Neuronopathic Gaucher disease can present as a continuum of clinical findings, including somatic symptoms of anemia, thrombocytopenia, hepatosplenomegaly, and bone disease as well as neurologic sequelae. There is a spectrum of neurologic symptoms ranging from oculomotor apraxia to severe convulsions. The heterozygosity of phenotypes makes it difficult to predict the disease course. We describe an 8-year-old male with neuronopathic type III Gaucher disease who developed bladder dysfunction and was unable to completely void. He also presented with hypertension and acute renal insufficiency, most likely secondary to urinary retention. A complete evaluation was done for causes of urinary retention and bladder dysfunction. A renal bladder ultrasound demonstrated marked hydroureteronephrosis. There was no clinical evidence of infection and cystoscopy revealed no anatomic obstruction. In addition, MRI showed no spinal abnormalities. His bladder dysfunction was managed operatively by creati...
The Journal of Urology, 2010
Patients with type Ia glycogen storage disease have an increased recurrent nephrolithiasis rate. ... more Patients with type Ia glycogen storage disease have an increased recurrent nephrolithiasis rate. We identified stone forming risk factors in patients with type Ia glycogen storage disease vs those in stone formers without the disease. Patients with type Ia glycogen storage disease were prospectively enrolled from our metabolic clinic. Patient 24-hour urine parameters were compared to those in age and gender matched stone forming controls. We collected 24-hour urine samples from 13 patients with type Ia glycogen storage disease. Average +/- SD age was 27.0 +/- 13.0 years and 6 patients (46%) were male. Compared to age and gender matched hypocitraturic, stone forming controls patients had profound hypocitraturia (urinary citrate 70 vs 344 mg daily, p = 0.009). When comparing creatinine adjusted urinary values, patients had profound hypocitraturia (0.119 vs 0.291 mg/mg creatinine, p = 0.005) and higher oxalate (0.026 vs 0.021 mg/mg creatinine, p = 0.038) vs other stone formers. Patients with type Ia glycogen storage disease have profound hypocitraturia, as evidenced by 24-hour urine collections, even compared to other stone formers. This may be related to a recurrent nephrolithiasis rate greater than in the overall population. These findings may be used to support different treatment modalities, timing and/or doses to prevent urinary lithiasis in patients with type Ia glycogen storage disease.
Journal of Inherited Metabolic Disease, 2005
We present a series of 8 patients (6 males, 2 females) with hepatocellular carcinoma (HCC) and gl... more We present a series of 8 patients (6 males, 2 females) with hepatocellular carcinoma (HCC) and glycogen storage disease type Ia (GSD Ia). In this group, the age at which treatment was initiated ranged from birth to 39 years (mean 9.9 years). All patients but one were noncompliant with treatment. Hepatic masses were first detected at an age range of 13-45 years (mean 28.1 years). Age at diagnosis of HCC ranged from 19 to 49 years (mean 36.9 years). Duration between the diagnosis of liver adenomas and the diagnosis of HCC ranged from 0 to 28 years (mean 8.8 years, SD = 11.5). Two patients had positive hepatitis serologies (one hepatitis B, one hepatitis C). Alpha-fetoprotein (AFP) was normal in 6 of the 8 patients. Carcinoembryonic antigen (CEA) was normal in the 5 patients in which it was measured. Current guidelines recommend abdominal ultrasonography with AFP and CEA levels every 3 months once patients develop hepatic lesions. Abdominal CT or MRI is advised when the lesions are large or poorly defined or are growing larger. We question the reliability of AFP and CEA as markers for HCC in GSD Ia. Aggressive interventional management of masses with rapid growth or poorly defined margins may be necessary to prevent the development of HCC in this patient population.
Genetics in Medicine, 2001
The cell line used to generate the enzyme (rhGAA) used in this clinical trial was constructed in ... more The cell line used to generate the enzyme (rhGAA) used in this clinical trial was constructed in Dr. Y.-T. Chen&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#x27;s laboratory at Duke University, and subsequently, Duke licensed the cell line and technology to Synpac (North Carolina), Inc., who provided the GMP-grade rhGAA ...