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1. Autistic Disorder: A 20 Year Chronicle

Author

Skinner, Cindy, Pauly, Rini, Skinner, Steven A., Schroer, Richard J., Simensen, Richard J., Taylor, Harold A., Friez, Michael J., DuPont, Barbara R., and Stevenson, Roger E.

Abstract

The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995-1998, follow up: 2014-2019). Specific genetic and environmental causes were identified in only a minority. Intellectual disability coexisted in 84%. Few became independent with 99% living at home with relatives, in disability group homes or in residential facilities. Seven individuals (3.7%) attained postsecondary education, two receiving baccalaureate degrees, two receiving associate degrees, and three receiving certificates from college disability programs. It may be anticipated that the long term outcome for individuals currently diagnosed with Autism Spectrum Disorder (ASD) will be substantially better than for individuals with Autistic Disorder in this cohort.

Published
2021
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2. Autistic Disorder: A 20 Year Chronicle

Author

Skinner, Cindy, Pauly, Rini, Skinner, Steven A., Schroer, Richard J., Simensen, Richard J., Taylor, Harold A., and Friez, Michael J.

Subjects
Pervasive developmental disorders -- Causes of -- Statistics -- Diagnosis, Autistic children -- Statistics -- Care and treatment, Health
Abstract

The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995-1998, follow up: 2014-2019). Specific genetic and environmental causes were identified in only a minority. Intellectual disability coexisted in 84%. Few became independent with 99% living at home with relatives, in disability group homes or in residential facilities. Seven individuals (3.7%) attained postsecondary education, two receiving baccalaureate degrees, two receiving associate degrees, and three receiving certificates from college disability programs. It may be anticipated that the long term outcome for individuals currently diagnosed with Autism Spectrum Disorder (ASD) will be substantially better than for individuals with Autistic Disorder in this cohort., Author(s): Cindy Skinner [sup.1] , Rini Pauly [sup.1] , Steven A. Skinner [sup.1] , Richard J. Schroer [sup.1] , Richard J. Simensen [sup.1] , Harold A. Taylor [sup.1] , Michael [...]

Published
2021
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3. Missense mutations in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions

Author

Monnens, Yenthe, primary, Theodoropoulou, Anastasia, additional, Rosier, Karen, additional, Bhalla, Kritika, additional, Mahy, Alexia, additional, Vanhoutte, Roeland, additional, Meulemans, Sandra, additional, Cavani, Edoardo, additional, Antanasijevic, Aleksandar, additional, Lemmens, Irma, additional, Lee, Jennifer A., additional, Spellicy, Catherin J., additional, Schroer, Richard J., additional, Masalli, Richardo A., additional, Laverty, Chamindra G., additional, Agostinis, Patrizia, additional, Pagliarini, David, additional, Verhelst, Steven, additional, Marcaida, Maria J., additional, Rochtus, Anne, additional, Dal Peraro, Matteo, additional, and Creemers, John W.M., additional

Published
2023
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4. A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Author

Celestino-Soper, Patrícia B. S., Violante, Sara, Crawford, Emily L., Luo, Rui, Lionel, Anath C., Delaby, Elsa, Cai, Guiqing, Sadikovic, Bekim, Lee, Kwanghyuk, Lo, Charlene, Gao, Kun, Person, Richard E., Moss, Timothy J., German, Jennifer R., Huang, Ni, Shinawi, Marwan, Treadwell-Deering, Diane, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget, Schroer, Richard J., Stevenson, Roger E., Buxbaum, Joseph D., Betancur, Catalina, Scherer, Stephen W., Sanders, Stephan J., Geschwind, Daniel H., Sutcliffe, James S., Hurles, Matthew E., Wanders, Ronald J. A., Shaw, Chad A., Leal, Suzanne M., Cook,, Edwin H., Goin-Kochel, Robin P., Vaz, Frédéric M., and Beaudet, Arthur L.

Published
2012

5. Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability

Author

Bhalla, Kavita, Yue Luo, Buchan, Tim, Beachem, Michael A., Guzauskas, Gregory F., Ladd, Sydney, Bratcher, Shelly J., Schroer, Richard J., Balsamo, Janne, DuPont, Barbara R., Lilien, Jack, and Srivastava, Anand K.

Subjects
Human genome -- Research, Mental retardation -- Genetic aspects, Chromosome abnormalities -- Research, Cell adhesion -- Research, Phenotype -- Analysis, Biological sciences
Abstract

A chromosomal translocation is employed to determine the disruption of two genes encoding putative cell-adhesion molecules, CDH15 (cadherin superfamily) and KIRREL3 (immunoglobulin superfamily) in patients with mild to severe intellectual disability (ID). The alterations in these molecules are shown to play a significant role in the phenotypi c expression of ID in some of the patients.

Published
2008

6. Epimerase-deficiency galactosemia is not a binary condition

Author

Openo, Kimberly K., Schulz, Jenny M., Vargas, Claudia A., Orton, Corey S., Epstein, Michael P., Schnur, Rhonda E., Scaglia, Fernando, Berry, Gerard T., Gottesman, Gary S., Ficicioglu, Can, Slonim, Alfred E., Schroer, Richard J., Yu, Chunli, Rangel, Vanessa E., Keenan, Jennifer, Lamance, Kerri, and Fridovich-Keil, Judith L.

Subjects
Galactosemia -- Genetic aspects, Eukaryotes -- Research, Transferases -- Research, Biological sciences
Published
2006

8. Clinical utility of the X-chromosome array

Author

Zarate, Yuri A., Dwivedi, Alka, Bartel, Frank O., Bellomo, Allison M., Cathey, Sara S., Champaigne, Neena L., Clarkson, Kate L., DuPont, Barbara R., Everman, David B., Geer, Joseph S., Gordon, Barbara C., Lichty, Angie W., Lyons, Michael J., Rogers, Curtis R., Saul, Robert A., Schroer, Richard J., Skinner, Steven A., and Stevenson, Roger E.

Published
2013
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11. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. (Report)

Author

Hahn, Kimberly A., Salomons, Gajja S., Tackels-Horne, Darci, Wood, Tim C., Taylor, Harold A., Schroer, Richard J., Lubs, Herbert A., Jakobs, Cornelis, Olson, Rick L., Holden, Kenton R., Stevenson, Roger E., and Schwartz, Charles E.

Subjects
Mental retardation -- Genetic aspects, Creatine -- Genetic aspects, Fragile X syndrome -- Research, Biological sciences
Published
2002

12. Autistic Disorder: A 20 Year Chronicle

Author

Skinner, Cindy, primary, Pauly, Rini, additional, Skinner, Steven A., additional, Schroer, Richard J., additional, Simensen, Richard J., additional, Taylor, Harold A., additional, Friez, Michael J., additional, DuPont, Barbara R., additional, and Stevenson, Roger E., additional

Published
2020
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13. Natural history of Christianson syndrome

Author

Schroer, Richard J., Holden, Kenton R., Tarpey, Patrick S., Matheus, Maria Giselle, Griesemer, David A., Friez, Michael J., Fan, Jane Zheng, Simensen, Richard J., Strømme, Petter, Stevenson, Roger E., Stratton, Michael R., and Schwartz, Charles E.

Published
2010
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15. Autism and macrocephaly

Author

Stevenson, Roger E, Schroer, Richard J, Skinner, Cindy, Fender, Don, and Simensen, Richard J

Published
1997

16. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Author

Kapferer-Seebacher, Ines, primary, Pepin, Melanie, additional, Werner, Roland, additional, Aitman, Timothy J., additional, Nordgren, Ann, additional, Stoiber, Heribert, additional, Thielens, Nicole, additional, Gaboriaud, Christine, additional, Amberger, Albert, additional, Schossig, Anna, additional, Gruber, Robert, additional, Giunta, Cecilia, additional, Bamshad, Michael, additional, Björck, Erik, additional, Chen, Christina, additional, Chitayat, David, additional, Dorschner, Michael, additional, Schmitt-Egenolf, Marcus, additional, Hale, Christopher J., additional, Hanna, David, additional, Hennies, Hans Christian, additional, Heiss-Kisielewsky, Irene, additional, Lindstrand, Anna, additional, Lundberg, Pernilla, additional, Mitchell, Anna L., additional, Nickerson, Deborah A., additional, Reinstein, Eyal, additional, Rohrbach, Marianne, additional, Romani, Nikolaus, additional, Schmuth, Matthias, additional, Silver, Rachel, additional, Taylan, Fulya, additional, Vandersteen, Anthony, additional, Vandrovcova, Jana, additional, Weerakkody, Ruwan, additional, Yang, Margaret, additional, Pope, F. Michael, additional, Byers, Peter H., additional, Zschocke, Johannes, additional, Aleck, Kirk, additional, Banki, Zoltan, additional, Dudas, Joszef, additional, Dumfahrt, Herbert, additional, Haririan, Hady, additional, Hartsfield, James K., additional, Kagen, Charles N., additional, Lindert, Uschi, additional, Meitinger, Thomas, additional, Posch, Wilfried, additional, Pritz, Christian, additional, Ross, David, additional, Schroer, Richard J., additional, Wick, Georg, additional, Wildin, Robert, additional, and Wilflingseder, Doris, additional

Published
2016
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18. Clinical utility of the X-chromosome array

Author

Zarate, Yuri A., primary, Dwivedi, Alka, additional, Bartel, Frank O., additional, Bellomo, M. Allison, additional, Cathey, Sara S., additional, Champaigne, Neena L., additional, Clarkson, L. Kate, additional, DuPont, Barbara R., additional, Everman, David B., additional, Geer, Joseph S., additional, Gordon, Barbara C., additional, Lichty, Angie W., additional, Lyons, Michael J., additional, Rogers, R. Curtis, additional, Saul, Robert A., additional, Schroer, Richard J., additional, Skinner, Steven A., additional, and Stevenson, Roger E., additional

Published
2012
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19. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Author

Boccuto, Luigi, primary, Lauri, Maria, additional, Sarasua, Sara M, additional, Skinner, Cindy D, additional, Buccella, Daniela, additional, Dwivedi, Alka, additional, Orteschi, Daniela, additional, Collins, Julianne S, additional, Zollino, Marcella, additional, Visconti, Paola, additional, DuPont, Barb, additional, Tiziano, Danilo, additional, Schroer, Richard J, additional, Neri, Giovanni, additional, Stevenson, Roger E, additional, Gurrieri, Fiorella, additional, and Schwartz, Charles E, additional

Published
2012
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22. A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Author

Sharp, Andrew J, primary, Mefford, Heather C, additional, Li, Kelly, additional, Baker, Carl, additional, Skinner, Cindy, additional, Stevenson, Roger E, additional, Schroer, Richard J, additional, Novara, Francesca, additional, De Gregori, Manuela, additional, Ciccone, Roberto, additional, Broomer, Adam, additional, Casuga, Iris, additional, Wang, Yu, additional, Xiao, Chunlin, additional, Barbacioru, Catalin, additional, Gimelli, Giorgio, additional, Bernardina, Bernardo Dalla, additional, Torniero, Claudia, additional, Giorda, Roberto, additional, Regan, Regina, additional, Murday, Victoria, additional, Mansour, Sahar, additional, Fichera, Marco, additional, Castiglia, Lucia, additional, Failla, Pinella, additional, Ventura, Mario, additional, Jiang, Zhaoshi, additional, Cooper, Gregory M, additional, Knight, Samantha J L, additional, Romano, Corrado, additional, Zuffardi, Orsetta, additional, Chen, Caifu, additional, Schwartz, Charles E, additional, and Eichler, Evan E, additional

Published
2008
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23. A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

Author

Jiang, Yong‐hui, primary, Sahoo, Trilochan, additional, Michaelis, Ron C., additional, Bercovich, Dani, additional, Bressler, Jan, additional, Kashork, Catherine D., additional, Liu, Qian, additional, Shaffer, Lisa G., additional, Schroer, Richard J., additional, Stockton, David W., additional, Spielman, Richard S., additional, Stevenson, Roger E., additional, and Beaudet, Arthur L., additional

Published
2004
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28. Autism and maternally derived aberrations of chromosome 15q

Author

Schroer, Richard J., primary, Phelan, Mary C., additional, Michaelis, Ron C., additional, Crawford, Eric C., additional, Skinner, Steven A., additional, Cuccaro, Michael, additional, Simensen, Richard J., additional, Bishop, Janet, additional, Skinner, Cindy, additional, Fender, Don, additional, and Stevenson, Roger E., additional

Published
1998
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30. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

Author

Boccuto, Luigi, Lauri, Maria, Sarasua, Sara M, Skinner, Cindy D, Buccella, Daniela, Dwivedi, Alka, Orteschi, Daniela, Collins, Julianne S, Zollino, Marcella, Visconti, Paola, DuPont, Barb, Tiziano, Danilo, Schroer, Richard J, Neri, Giovanni, Stevenson, Roger E, Gurrieri, Fiorella, and Schwartz, Charles E

Subjects
AUTISM in children, AUTISM spectrum disorders, PERVASIVE child development disorders, ASPERGER'S syndrome in children, GENETIC testing, PATIENTS
Abstract

Autism spectrum disorders (ASDs) include three main conditions: autistic disorder (AD), pervasive developmental disorder, not otherwise specified (PDD-NOS), and Asperger syndrome. It has been shown that many genes associated with ASDs are involved in the neuroligin-neurexin interaction at the glutamate synapse: NLGN3, NLGN4, NRXN1, CNTNAP2, and SHANK3. We screened this last gene in two cohorts of ASD patients (133 patients from US and 88 from Italy). We found 5/221 (2.3%) cases with pathogenic alterations: a 106 kb deletion encompassing the SHANK3 gene, two frameshift mutations leading to premature stop codons, a missense mutation (p.Pro141Ala), and a splicing mutation (c.1820-4 G>A). Additionally, in 17 patients (7.7%) we detected a c.1304+48C>T transition affecting a methylated cytosine in a CpG island. This variant is reported as SNP rs76224556 and was found in both US and Italian controls, but it results significantly more frequent in our cases than in the control cohorts. The variant is also significantly more common among PDD-NOS cases than in AD cases. We also screened this gene in an independent replication cohort of 104 US patients with ASDs, in which we found a missense mutation (p.Ala1468Ser) in 1 patient (0.9%), and in 8 patients (7.7%) we detected the c.1304+48C>T transition. While SHANK3 variants are present in any ASD subtype, the SNP rs76224556 appears to be significantly associated with PDD-NOS cases. This represents the first evidence of a genotype-phenotype correlation in ASDs and highlights the importance of a detailed clinical-neuropsychiatric evaluation for the effective genetic screening of ASD patients. [ABSTRACT FROM AUTHOR]

Published
2013
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32. Diagnosis, Treatment, and Long-Term Outcomes of Late-Onset (Type III) Multiple Acyl-CoA Dehydrogenase Deficiency.

Author

Pollard, Laura M., Williams, Nolan R., Espinoza, Lesby, Wood, Tim C., Spector, Elaine B., Schroer, Richard J., and Holden, Kenton R.

Subjects
DEHYDROGENASES, AMINO acid metabolism disorders, DIAGNOSIS of muscle diseases, NEWBORN screening, CHARGE exchange, FLAVOPROTEINS
Abstract

We report 4 children with late-onset (type III) multiple acyl-CoA dehydrogenase deficiency, also known as glutaric aciduria type II, which is an autosomal recessive disorder of fatty acid and amino acid metabolism. The underlying deficiency is in the electron transfer flavoprotein or electron flavoprotein dehydrogenase. Clinical presentations include fatal acute neonatal metabolic encephalopathies with/without organ system anomalies (types I and II) and late-onset acute metabolic crises, myopathy, or neurodevelopmental delays (type III). Two patients were identified in childhood following a metabolic crisis and/or neurodevelopmental delay, and 2 were identified by newborn metabolic screening. Our cases will illustrate the difficulty in making a biochemical diagnosis of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency from plasma acylcarnitines and urine organic acids in both symptomatic and asymptomatic children. However, they emphasize the need for timely diagnosis to urgently implement prophylactic treatment for life-threatening metabolic crises with low protein/fat diets supplemented with riboflavin and carnitine. [ABSTRACT FROM AUTHOR]

Published
2010
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35. Absence of MeCP2 mutations in patients from the South Carolina autism project

Author

Lobo-Menendez, Fe, Sossey-Alaoui, Khalid, Bell, Jennifer M., Copeland-Yates, Susan A., Plank, Sara M., Sanford, Stewart O., Skinner, Cindy, Simensen, Richard J., Schroer, Richard J., and Michaelis, Ron C.

Abstract

The methyl-CpG binding protein 2 (MeCP2) gene has recently been identified as the gene responsible for Rett syndrome (RS), a pervasive developmental disorder considered by many to be one of the autism spectrum disorders. Most female patients with MeCP2 mutations exhibit the classic features of RS, including autistic behaviors. Most male patients with MeCP2 mutations exhibit moderate to severe developmental delay/mental retardation. Ninety nine patients from the South Carolina autism project (SCAP) were screened for MeCP2 mutations, including all 41 female patients from whom DNA samples were available plus the 58 male patients with the lowest scores on standard IQ tests and/or the Vineland Adaptive Behavior Scale. No pathogenic mutations were observed in these patients. One patient had the C582T variant, previously reported in the unaffected father of an RS patient. Two other patients had single nucleotide polymorphisms in the 3' UTR of the gene, G1470A and C1516G. These variants were seen in 12/82 and 1/178 phenotypically normal male controls, respectively. The findings from this and other studies suggest that mutations in the coding sequence of the MeCP2 gene are not a significant etiological factor in autism. © 2003 Wiley-Liss, Inc.

Published
2003
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37. Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions.

Author

Monnens Y, Theodoropoulou A, Rosier K, Bhalla K, Mahy A, Vanhoutte R, Meulemans S, Cavani E, Antanasijevic A, Lemmens I, Lee JA, Spellicy CJ, Schroer RJ, Maselli RA, Laverty CG, Agostinis P, Pagliarini DJ, Verhelst S, Marcaida MJ, Rochtus A, Dal Peraro M, and Creemers JW

Abstract

Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a rare genetic disorder caused by deleterious genetic variation in the prolyl endopeptidase-like (PREPL) gene. Previous reports have described patients with deletions and nonsense variants in PREPL, but nothing is known about the effect of missense variants in the pathology of CMS22. In this study, we have functionally characterized missense variants in PREPL from three CMS22 patients, all with hallmark phenotypes. Biochemical evaluation revealed that these missense variants do not impair hydrolase activity, thereby challenging the conventional diagnostic criteria and disease mechanism. Structural analysis showed that the variants affect regions most likely involved in intra-protein or protein-protein interactions. Indeed, binding to a selected group of known interactors was differentially reduced for the three mutants. The importance of non-hydrolytic functions of PREPL was investigated in catalytically inactive PREPL p.Ser559Ala cell lines which showed that hydrolytic activity of PREPL is needed for normal mitochondrial function but not for regulating AP1-mediated transport in the trans-Golgi network. In conclusion, these studies showed that CMS22 can be caused not only by deletion and truncation of PREPL but also by missense variants that do not necessarily result in a loss of hydrolytic activity of PREPL.

Published
2024
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