Scholars@Duke
Gail A. Spiridigliozzi

Gail A. Spiridigliozzi

Professor in Psychiatry and Behavioral Sciences
Psychiatry, Child & Family Mental Health & Community Psychiatry
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Selected Publications

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.

Journal Article Mol Genet Metab · February 2024 INTRODUCTION: The standard of care for patients with infantile-onset Pompe disease (IOPD) is enzyme replacement therapy (ERT), which does not cross the blood brain barrier. While neuromuscular manifestations of IOPD are well-described, central nervous syst ... Full text Link to item Cite

Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.

Journal Article Am J Med Genet C Semin Med Genet · December 2023 Individuals with Down syndrome (DS) have been particularly impacted by respiratory conditions, such as pneumonia. However, the description of co-occurring recurrent infections, the response to pneumococcal immunization, and the association of these was pre ... Full text Link to item Cite

Down syndrome

Chapter · February 19, 2021 Down syndrome is the most common identifiable genetic cause of intellectual disability. The facial appearance of individuals with Down syndrome is highly characteristic and is frequently associated with other minor anomalies and malformations of other body ... Full text Open Access Link to item Cite

Behavioral, social and school functioning in children with Pompe disease.

Journal Article Mol Genet Metab Rep · December 2020 PURPOSE: To improve our understanding of the behavioral, social, and emotional functioning of children and adolescents with Pompe disease. METHOD: Parents/guardians of 21 children (age 5-18y) with infantile (IPD) or late-onset (LOPD) Pompe disease on long- ... Full text Open Access Link to item Cite

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.

Journal Article Am J Intellect Dev Disabil · November 1, 2020 Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity to change. Norm-referenced scores often decrease over time among people with neurodevelopmental disorders who ex ... Full text Link to item Cite

Novel approaches to quantify CNS involvement in children with Pompe disease.

Journal Article Neurology · August 2020 ObjectiveTo characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments.MethodsThe study included 14 children (ages 6-18 years) with infantile Pompe disease (IPD) (n = 12) or lat ... Full text Open Access Cite

Parent report of school functioning and behavior in children with Pompe disease

Conference Molecular Genetics and Metabolism · February 2019 Full text Cite

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.

Journal Article Am J Med Genet A · January 2019 Measures of adaptive behavior are important in the assessment and treatment of individuals with intellectual disabilities (ID). The purpose of the current study was to evaluate the stability of an established and a novel measure of adaptive behavior over t ... Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · September 6, 2018 Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · August 2, 2018 Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Her ... Full text Link to item Cite

Cognition and brain involvement in infantile Pompe disease

Conference Molecular Genetics and Metabolism · February 2018 Full text Cite

Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.

Journal Article Am J Med Genet A · November 2017 We systematically reviewed the measures used in pharmaceutical trials in children/adults with Down syndrome without dementia. Our purpose was to identify developmentally appropriate outcome measures capable of detecting changes in cognitive and adaptive fu ... Full text Open Access Link to item Cite

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.

Journal Article Am J Med Genet A · November 2017 Although an increasing number of clinical trials have been developed for cognition in Down syndrome, there has been limited success to date in identifying effective interventions. This review describes the progression from pre-clinical studies with mouse m ... Full text Link to item Cite

Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

Journal Article Mol Genet Metab · June 2017 This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) (median age=11years, 1month, range=5years, 6months through 17years of age) treated with enzyme replacement therapy from an early a ... Full text Link to item Cite

Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.

Journal Article Am J Med Genet A · June 2016 Individuals with Down syndrome (DS) have decreased cholinergic function and an uneven profile of cognitive abilities, with more pronounced deficits in learning, memory, and expressive language. Cholinesterase inhibitors may improve cognitive function in ad ... Full text Link to item Cite

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.

Journal Article Front Behav Neurosci · 2015 Down syndrome (DS) is the most commonly identifiable genetic form of intellectual disability. Individuals with DS have considerable deficits in intellectual functioning (i.e., low intellectual quotient, delayed learning and/or impaired language development ... Full text Link to item Cite

Early cognitive development in children with infantile Pompe disease.

Journal Article Mol Genet Metab · March 2012 This report describes the cognitive development of 17 children with infantile Pompe disease who participated in a 52-week clinical trial of enzyme replacement therapy (ERT) via biweekly infusion of Myozyme® (alglucosidase alfa). Subjects were six months of ... Full text Open Access Link to item Cite

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 This report documents the long-term cognitive and adaptive outcome of children with infantile Pompe disease. Specifically, we describe the cognitive and adaptive functioning of seven children with classic infantile Pompe disease and two children with atypi ... Full text Link to item Cite

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up

Journal Article AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS · February 15, 2012 Full text Link to item Cite

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.

Journal Article Mol Genet Metab · February 2024 INTRODUCTION: The standard of care for patients with infantile-onset Pompe disease (IOPD) is enzyme replacement therapy (ERT), which does not cross the blood brain barrier. While neuromuscular manifestations of IOPD are well-described, central nervous syst ... Full text Link to item Cite

Pneumonia vaccine response in individuals with Down syndrome at three specialty clinics.

Journal Article Am J Med Genet C Semin Med Genet · December 2023 Individuals with Down syndrome (DS) have been particularly impacted by respiratory conditions, such as pneumonia. However, the description of co-occurring recurrent infections, the response to pneumococcal immunization, and the association of these was pre ... Full text Link to item Cite

Down syndrome

Chapter · February 19, 2021 Down syndrome is the most common identifiable genetic cause of intellectual disability. The facial appearance of individuals with Down syndrome is highly characteristic and is frequently associated with other minor anomalies and malformations of other body ... Full text Open Access Link to item Cite

Behavioral, social and school functioning in children with Pompe disease.

Journal Article Mol Genet Metab Rep · December 2020 PURPOSE: To improve our understanding of the behavioral, social, and emotional functioning of children and adolescents with Pompe disease. METHOD: Parents/guardians of 21 children (age 5-18y) with infantile (IPD) or late-onset (LOPD) Pompe disease on long- ... Full text Open Access Link to item Cite

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.

Journal Article Am J Intellect Dev Disabil · November 1, 2020 Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity to change. Norm-referenced scores often decrease over time among people with neurodevelopmental disorders who ex ... Full text Link to item Cite

Novel approaches to quantify CNS involvement in children with Pompe disease.

Journal Article Neurology · August 2020 ObjectiveTo characterize the extent of CNS involvement in children with Pompe disease using brain MRI and developmental assessments.MethodsThe study included 14 children (ages 6-18 years) with infantile Pompe disease (IPD) (n = 12) or lat ... Full text Open Access Cite

Parent report of school functioning and behavior in children with Pompe disease

Conference Molecular Genetics and Metabolism · February 2019 Full text Cite

Adaptive behavior in adolescents and adults with Down syndrome: Results from a 6-month longitudinal study.

Journal Article Am J Med Genet A · January 2019 Measures of adaptive behavior are important in the assessment and treatment of individuals with intellectual disabilities (ID). The purpose of the current study was to evaluate the stability of an established and a novel measure of adaptive behavior over t ... Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · September 6, 2018 Full text Link to item Cite

IRF2BPL Is Associated with Neurological Phenotypes.

Journal Article Am J Hum Genet · August 2, 2018 Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological function of this gene is obscure, and the gene has not been associated with a Mendelian disease. Her ... Full text Link to item Cite

Cognition and brain involvement in infantile Pompe disease

Conference Molecular Genetics and Metabolism · February 2018 Full text Cite

Challenges in measuring the effects of pharmacological interventions on cognitive and adaptive functioning in individuals with Down syndrome: A systematic review.

Journal Article Am J Med Genet A · November 2017 We systematically reviewed the measures used in pharmaceutical trials in children/adults with Down syndrome without dementia. Our purpose was to identify developmentally appropriate outcome measures capable of detecting changes in cognitive and adaptive fu ... Full text Open Access Link to item Cite

Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.

Journal Article Am J Med Genet A · November 2017 Although an increasing number of clinical trials have been developed for cognition in Down syndrome, there has been limited success to date in identifying effective interventions. This review describes the progression from pre-clinical studies with mouse m ... Full text Link to item Cite

Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

Journal Article Mol Genet Metab · June 2017 This study examines the long-term cognitive and academic outcomes of 11 individuals with infantile onset Pompe disease (IOPD) (median age=11years, 1month, range=5years, 6months through 17years of age) treated with enzyme replacement therapy from an early a ... Full text Link to item Cite

Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.

Journal Article Am J Med Genet A · June 2016 Individuals with Down syndrome (DS) have decreased cholinergic function and an uneven profile of cognitive abilities, with more pronounced deficits in learning, memory, and expressive language. Cholinesterase inhibitors may improve cognitive function in ad ... Full text Link to item Cite

Assessment of Cognitive Scales to Examine Memory, Executive Function and Language in Individuals with Down Syndrome: Implications of a 6-month Observational Study.

Journal Article Front Behav Neurosci · 2015 Down syndrome (DS) is the most commonly identifiable genetic form of intellectual disability. Individuals with DS have considerable deficits in intellectual functioning (i.e., low intellectual quotient, delayed learning and/or impaired language development ... Full text Link to item Cite

Early cognitive development in children with infantile Pompe disease.

Journal Article Mol Genet Metab · March 2012 This report describes the cognitive development of 17 children with infantile Pompe disease who participated in a 52-week clinical trial of enzyme replacement therapy (ERT) via biweekly infusion of Myozyme® (alglucosidase alfa). Subjects were six months of ... Full text Open Access Link to item Cite

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up.

Journal Article Am J Med Genet C Semin Med Genet · February 15, 2012 This report documents the long-term cognitive and adaptive outcome of children with infantile Pompe disease. Specifically, we describe the cognitive and adaptive functioning of seven children with classic infantile Pompe disease and two children with atypi ... Full text Link to item Cite

Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: Long-term follow-up

Journal Article AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS · February 15, 2012 Full text Link to item Cite

Influence of genetic risk information on parental role identity in adolescent girls and young women from families with fragile X syndrome.

Journal Article J Genet Couns · February 2012 Using a multi-group cross-sectional design, we explored self-concept related to parental role salience and enactment in 53 young women (14 to 24 years) with knowledge they were either carriers, non-carriers, or could be a carrier of fragile X syndrome (FXS ... Full text Link to item Cite

Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10-17.

Journal Article Am J Med Genet A · December 2010 The objective of this 10-week, randomized, double-blind, placebo-controlled multicenter study was to assess the efficacy and safety of donepezil for the treatment of cognitive dysfunction exhibited by children with Down syndrome (DS). Intervention comprise ... Full text Link to item Cite

Safety and efficacy of rivastigmine in adolescents with Down syndrome: long-term follow-up.

Journal Article J Child Adolesc Psychopharmacol · December 2010 Following the completion of a 20-week, open-label study of the safety and efficacy of liquid rivastigmine for adolescents with Down syndrome, 5 of the 10 adolescents in the clinical trial continued long-term rivastigmine therapy and 5 did not. After an ave ... Full text Open Access 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

The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome.

Journal Article Am J Med Genet A · August 2009 Featured Publication The objective of our study was to assess the efficacy and safety of donepezil in young adults with Down syndrome (DS) but no evidence of Alzheimer disease (AD). A 12-week, randomized, double-blind, placebo-controlled study with a 12-week, open-label extens ... Full text Link to item Cite

Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome.

Journal Article J Genet Couns · August 2009 Featured Publication Little is known about how and what genetic risk information parents communicate to their children and even less is known about what children hear and remember. To address this void, we explored how genetic risk information was learned, what information was ... Full text Link to item Cite

When to tell and test for genetic carrier status: perspectives of adolescents and young adults from fragile X families.

Journal Article Am J Med Genet A · June 2009 Featured Publication We report here on our findings from adolescent and young adult females (ages 14-25) with a family history of fragile X syndrome regarding their perceptions of the optimal ages for (1) learning fragile X is inherited, (2) learning one could be a carrier for ... 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

Preliminary study of the safety and efficacy of donepezil hydrochloride in children with Down syndrome: a clinical report series.

Journal Article Am J Med Genet A · July 1, 2007 Featured Publication There is growing evidence to support the use of early central cholinergic enhancement to improve cognitive functioning in individuals with Down syndrome (DS). This report summarizes preliminary safety and cognitive efficacy data for seven children (8-13 ye ... Full text Link to item Cite

Safety and efficacy of rivastigmine in adolescents with Down syndrome: a preliminary 20-week, open-label study.

Journal Article J Child Adolesc Psychopharmacol · December 2006 Featured Publication Individuals with Down syndrome (DS) exhibit a cholinergic deficiency similar to that found in Alzheimer's disease. Cholinesterase inhibitors, used to treat Alzheimer's disease, may improve cognitive function in individuals with DS. This is the first invest ... Full text Link to item Cite

Clinical trials in children with Down syndrome: issues from a cognitive research perspective.

Journal Article Am J Med Genet C Semin Med Genet · August 15, 2006 Featured Publication Clinical and translational research play a key role in the transition of basic research discoveries to effective therapies. In Down syndrome (DS), these research approaches are not well utilized or developed to test new therapies to improve cognitive and/o ... 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

Donepezil effects on language in children with Down syndrome: results of the first 22-week pilot clinical trial.

Journal Article American journal of medical genetics. Part A · October 2004 Cite

Donepezil use in Down syndrome.

Journal Article Arch Neurol · April 2004 Full text Link to item Cite

"Family matters": a conceptual framework for genetic testing in children.

Journal Article J Genet Couns · February 2004 Genetic testing in minor children presents a complex ethical and social problem. Current guidelines state that genetic testing of children is recommended only under circumstances where a clear medical or psychosocial benefit to the child can be demonstrate ... Full text Link to item Cite

Donepezil for the treatment of language deficits in adults with Down syndrome: a preliminary 24-week open trial.

Journal Article Am J Med Genet A · January 15, 2003 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 24-week open-label clinical trial of donep ... 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 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

Donepezil for Down's syndrome.

Journal Article Am J Psychiatry · January 2001 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

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

Cholinergic therapy for Down's syndrome.

Journal Article Lancet · March 27, 1999 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

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

Fryns syndrome survivors and neurologic outcome.

Journal Article Am J Med Genet · November 20, 1995 Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three-year-old survivor with Fryns ... Full text 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

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

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

Control over stress, type A behavior pattern, and response to stress.

Journal Article J Pers Soc Psychol · March 1983 This study was conducted to examine (a) differences in physiological response of Type A and Type B individuals to conditions that varied in both controllability and consistency of controllability over an aversive stimulus and (b) whether Type A relative to ... Full text Link to item Cite

Affective isolation as a coping strategy for persons with low and high amounts of life stress

Journal Article Journal of Research in Personality · January 1, 1982 Previous research has investigated two diverse operational definitions of stress, experimentally induced, short-term stress and long-term, life stress. The purpose of this study was to intersect these two research methodologies and determine the effect of ... Full text Cite

Habituation and cognitive performance: Relationships between measures at four years of age and earlier assessments

Journal Article International Journal of Behavioral Development · January 1, 1980 Relationships between measures of visual habituation and performance on cognitive tasks at 51 months of age and between these and previous assessments (at 39, 27, 15 months and early infancy) were examined in 24 children. Results suggest that youngsters cu ... Full text Cite