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1. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Author

Mulder, P. A., primary, Balkom, I. D. C., additional, Landlust, A. M., additional, Priolo, M., additional, Menke, L. A., additional, Acero, I. H., additional, Alkuraya, F. S., additional, Arias, P., additional, Bernardini, L., additional, Bijlsma, E. K., additional, Cole, T., additional, Coubes, C., additional, Dapia, I., additional, Davies, S., additional, Di Donato, N., additional, Elcioglu, N. H., additional, Fahrner, J. A., additional, Foster, A., additional, González, N. G., additional, Huber, I., additional, Iascone, M., additional, Kaiser, A.‐S., additional, Kamath, A., additional, Kooblall, K., additional, Lapunzina, P., additional, Liebelt, J., additional, Lynch, S. A., additional, Maas, S. M., additional, Mammì, C., additional, Mathijssen, I. B., additional, McKee, S., additional, Mirzaa, G. M., additional, Montgomery, T., additional, Neubauer, D., additional, Neumann, T. E., additional, Pintomalli, L., additional, Pisanti, M. A., additional, Plomp, A. S., additional, Price, S., additional, Salter, C., additional, Santos‐Simarro, F., additional, Sarda, P., additional, Schanze, D., additional, Segovia, M., additional, Shaw‐Smith, C., additional, Smithson, S., additional, Suri, M., additional, Tatton‐Brown, K., additional, Tenorio, J., additional, Thakker, R. V., additional, Valdez, R. M., additional, Van Haeringen, A., additional, Van Hagen, J. M., additional, Zenker, M., additional, Zollino, M., additional, Dunn, W. W., additional, Piening, S., additional, and Hennekam, R. C., additional

Published
2020
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2. Development, behaviour and sensory processing in Marshall–Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Author

Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., Mckee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, Marcella, Dunn, W. W., Piening, S., Hennekam, R. C., Zollino M. (ORCID:0000-0003-4871-9519), Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., Mckee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, Marcella, Dunn, W. W., Piening, S., Hennekam, R. C., and Zollino M. (ORCID:0000-0003-4871-9519)

Abstract

Background: Ultrarare Marshall–Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. Methods: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall–Smith syndrome. Results: Marshall–Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall–Smith syndrome shows different individual learning curves over time. Conclusions: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.

Published
2020

3. Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress

Author

Kaan Kavakli, Emilia Vuttariello, Paola Manini, Paolo Degan, Federico V. Pallardó, Giovanni Pagano, Rita Calzone, Simona Cavalieri, Alfredo Brusco, Ana Lloret, Maria Antonietta Pisanti, Marco d'Ischia, Adriana Zatterale, Degan, P, D'Ischia, Marco, Pallardo, F. V., Zatterale, A, Brusco, A, Calzone, R, Cavalieri, S, Kavakli, K, Lloret, A, Manini, Paola, Pisanti, M. A., Vuttariello, E, Pagano, G., PALLARDO F., V, and PISANTI M., A

Subjects
Adult, Male, medicine.medical_specialty, Adolescent, glyoxal, Clinical Biochemistry, ataxia telengiectasia, medicine.disease_cause, Ataxia Telangiectasia, chemistry.chemical_compound, In vivo, Internal medicine, methylglyoxal, medicine, Humans, ataxia telangectasia, oxidative stress, glutathione, Child, oxidative stre, Methylglyoxal, Deoxyguanosine, 8-Hydroxy-2'-deoxyguanosine, Heterozygote advantage, General Medicine, Glutathione, Pyruvaldehyde, medicine.disease, Adaptation, Physiological, Endocrinology, chemistry, Biochemistry, Child, Preschool, Ataxia-telangiectasia, Female, Oxidative stress, Target organ, DNA Damage
Abstract

Objective: To evaluate an in vivo pro-oxidant state in patients with ataxia telangiectasia (AT). Methods: A set of oxidative stress endpoints were measured in 9 AT homozygotes, 16 AT heterozygotes (parents) and 83 controls (grouped in age ranges as for patients and parents, respectively). The following analytes were measured: (a) leukocyte 8-hydroxy-2-deoxyguanosine (8-OHdG); (b) blood glutathione (GSSG and GSH); and (c) plasma levels of glyoxal (Glx) and methylglyoxal (MGlx). Results: AT patients displayed a significant decrease in blood GSSG (p=0.012) and in MGlx plasma concentrations (P=0.012). A nonsignificant decrease in the GSSG:GSH ratio (p = 0.1) and a non-significant increase in 8-OHdG and Glx levels were observed in AT patients vs. young controls (age range 4-35 years). AT heterozygotes failed to display any significant changes vs. adult controls (age range 36-68 years). Conclusion: No significant increase in oxidative stress biomarkers was detected in blood from AT patients. The decrease in GSSG and MGlx levels in AT patients may suggest an adaptive response to a pro-oxidant state in AT-related target organs. (c) 2007 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Published
2007
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4. Multiple evidence for an early age pro-oxidant state in Down Syndrome patients

Author

Federico V. Pallardó, Paola Manini, Paolo Degan, Rafael Fernandez-Delgado, Giovanni Pagano, Frank J. Kelly, Adriana Zatterale, Emilia Vuttariello, Giuseppe Castello, Christina Dunster, Ana Lloret, Maria Antonietta Pisanti, Marco d'Ischia, Rita Calzone, Pallardo, F. V., Degan, P, D'Ischia, Marco, Kelly, F. J., Zatterale, A, Calzone, R, Castello, G, FERNANDEZ DELGADO, R, Dunster, C, Lloret, A, Manini, Paola, Pisanti, M. A., Vuttariello, E, Pagano, G., PALLARDO F., V, KELLY F., J, and PISANTI M., A

Subjects
Adult, Male, Aging, medicine.medical_specialty, Antioxidant, Adolescent, medicine.medical_treatment, medicine.disease_cause, chemistry.chemical_compound, Internal medicine, medicine, Humans, Child, Xanthine oxidase, business.industry, Vitamin E, Age Factors, Glutathione, Middle Aged, Ascorbic acid, Oxidative Stress, Endocrinology, chemistry, Biochemistry, Ageing, Child, Preschool, Uric acid, Female, Down Syndrome, Geriatrics and Gerontology, Reactive Oxygen Species, business, Gerontology, Oxidative stress
Abstract

Oxidative stress has been associated with Down syndrome (DS) and with its major phenotypic features, such as early ageing. In order to evaluate an in vivo pro-oxidant state, the following analytes were measured in a group of DS patients aged 2 months to 57 years: (a) leukocyte 8-hydroxy-2'-deoxyguanosine (8-OHdG); (b) blood glutathione; (c) plasma levels of: glyoxal (Glx) and methylglyoxal (MGlx); some antioxidants (uric acid, UA, ascorbic acid, AA and Vitamin E), and xanthine oxidase (XO) activity. A significant 1.5-fold increase in 8-OHdG levels was observed in 28 DS patients vs. 63 controls, with a sharper increase in DS patients aged up to 30 years. The GSSG:GSHx100 ratio was significantly higher in young DS patients (< 15 years), in contrast to DS patients aged >= 15 years that showed a significant decrease in the GSSG:GSHx100 ratio ratio vs. controls of the respective age groups. Plasma Glx levels were significantly higher in young DS patients, whereas no significant difference was detected in DS patients aged >= 15 years. Unlike Glx, the plasma levels of MGlx were found to be significantly lower in DS patients vs. controls. A significant increase was observed in plasma levels of UA in DS patients that could be related to an increased plasma XO activity in DS patients. The plasma concentrations of AA were also increased in young (< 15 years) DS patients, but not in older patients vs. controls in the same age range. The levels of Vitamin E in DS patients did not differ from the values determined in control donors. The evidence for a multiple pro-oxidant state in young DS patients supports the role of oxidative stress in DS phenotype, with relevant distinctions according to patients' ages.

Published
2006

5. Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes

Author

Inge B. Mathijssen, Claire G. Salter, J M van Hagen, Tara Montgomery, Manuela Priolo, T. E. Neumann, Charles Shaw-Smith, I. H. Acero, Raoul C.M. Hennekam, L. Pintomalli, Fernando Santos-Simarro, Christine Coubes, Maria Iascone, Leonie A. Menke, Nursel Elcioglu, M. Zollino, Ghayda M. Mirzaa, Shane McKee, Rajesh V. Thakker, S. Piening, I. Dapia, C. Mammì, Arveen Kamath, Jair Tenorio, Emilia K. Bijlsma, Pierre Sarda, W. W. Dunn, Denny Schanze, Paul A. Mulder, Pablo Lapunzina, Martin Zenker, A. van Haeringen, Laura Bernardini, Jan Liebelt, N. Di Donato, Dorothee Neubauer, Jill A. Fahrner, Alison Foster, Sally Ann Lynch, Sue Price, A. M. Landlust, Sally J. Davies, N. G. González, I. Huber, Rita Valdez, I. D. C. van Balkom, Maria Antonietta Pisanti, Saskia M. Maas, Sarah F. Smithson, Pedro Arias, Mohnish Suri, Mabel Segovia, Kreepa Kooblall, Katrina Tatton-Brown, Trevor Cole, A. S. Plomp, Ann Sophie Kaiser, Fowzan S. Alkuraya, Pediatric surgery, Human genetics, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Thakker, R. V., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zenker, M., Zollino, M., Dunn, W. W., Piening, S., Hennekam, R. C., Graduate School, ANS - Cellular & Molecular Mechanisms, General Paediatrics, ARD - Amsterdam Reproduction and Development, and Human Genetics

Subjects
cognition, Male, 030506 rehabilitation, Marshall–Smith syndrome, medicine.medical_treatment, CHILDREN, Comorbidity, Settore MED/03 - GENETICA MEDICA, Craniofacial Abnormalities, Quality of life, Septo-Optic Dysplasia, Intellectual disability, Adaptation, Psychological, sensory processing, Child, Netherlands, biology, Mental Disorders, 05 social sciences, Rehabilitation, Cognition, SOTOS-LIKE, Syndrome, NFIX, Psychiatry and Mental health, Phenotype, Neurology, adaptive behaviour, Child, Preschool, NFIX variants, Female, 0305 other medical science, Psychology, 050104 developmental & child psychology, Clinical psychology, Adult, Sensory processing, Adolescent, Challenging behaviour, NFIXvariants, Context (language use), AUTISTIC DISORDER, Speech Disorders, Article, 03 medical and health sciences, Young Adult, Arts and Humanities (miscellaneous), Intellectual Disability, medicine, Humans, 0501 psychology and cognitive sciences, Abnormalities, Multiple, Malan syndrome, Bone Diseases, Developmental, ADULTS, medicine.disease, Marshall-Smith syndrome, Cross-Sectional Studies, biology.protein, PATTERNS, Neurology (clinical), Follow-Up Studies
Abstract

BACKGROUND: Ultrarare Marshall-Smith and Malan syndromes, caused by changes of the gene nuclear factor I X (NFIX), are characterised by intellectual disability (ID) and behavioural problems, although questions remain. Here, development and behaviour are studied and compared in a cross-sectional study, and results are presented with genetic findings. METHODS: Behavioural phenotypes are compared of eight individuals with Marshall-Smith syndrome (three male individuals) and seven with Malan syndrome (four male individuals). Long-term follow-up assessment of cognition and adaptive behaviour was possible in three individuals with Marshall-Smith syndrome. RESULTS: Marshall-Smith syndrome individuals have more severe ID, less adaptive behaviour, more impaired speech and less reciprocal interaction compared with individuals with Malan syndrome. Sensory processing difficulties occur in both syndromes. Follow-up measurement of cognition and adaptive behaviour in Marshall-Smith syndrome shows different individual learning curves over time. CONCLUSIONS: Results show significant between and within syndrome variability. Different NFIX variants underlie distinct clinical phenotypes leading to separate entities. Cognitive, adaptive and sensory impairments are common in both syndromes and increase the risk of challenging behaviour. This study highlights the value of considering behaviour within developmental and environmental context. To improve quality of life, adaptations to environment and treatment are suggested to create a better person-environment fit.

Published
2019
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7. [Bart's hemoglobin in newborn infants of Campania].

Author

Iolascon A, Nobili B, Pinto L, Pepe A, Pisanti MA, Picardi L, and Iolascon G

Subjects
Electrophoresis, Cellulose Acetate, Genetic Carrier Screening, Humans, Infant, Newborn, Hemoglobins, Abnormal analysis, Infant, Newborn, Diseases, Thalassemia diagnosis
Published
1982

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