A longitudinal follow-up study of affect in children and adults with Cornelia de Lange syndrome

Lisa Nelson; Jo Moss; Chris Oliver

doi:10.1352/1944-7558-119.3.235

A longitudinal follow-up study of affect in children and adults with Cornelia de Lange syndrome

Lisa Nelson, Jo Moss, Chris Oliver

Psychology

Research output: Contribution to journal › Article › peer-review

12 Citations (Scopus)

Abstract

Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure Questionnaire (MIPQ) at Time 1 and 2 years later (Time 2). Scores on the MIPQ were significantly lower in the CdLS group compared with the CdCS and FXS groups at Time 1 and Time 2. Lower MIPQ scores were characteristic of older adolescents (> 15 years) and adults with CdLS. However, there were no significant differences in MIPQ scores between Time 1 and Time 2. Age and insistence on sameness predicted MIPQ scores in CdLS.

Original language	English
Pages (from-to)	235-252
Number of pages	18
Journal	American Journal on Intellectual and Developmental Disabilities
Volume	119
Issue number	3
DOIs	https://doi.org/10.1352/1944-7558-119.3.235
Publication status	Published - May 2014

Bibliographical note

Export Date: 23 March 2015

Correspondence Address: Nelson, L.; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, Edgbaston B15 2TT, United Kingdom; email: lkc074@bham.ac.uk

Funding Details: Cerebra

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Keywords

Affect
Behavioral phenotypes
Cornelia de Lange syndrome
Follow-up
Longitudinal
adolescent
adult
affect
age
article
behavioral phenotypes
cat cry syndrome
child
comparative study
de Lange syndrome
female
follow up
follow-up
fragile X syndrome
human
longitudinal
male
middle aged
pathophysiology
phenotype
physiology
predictive value
preschool child
young adult
Adolescent
Adult
Age Factors
Child
Child, Preschool
Cri-du-Chat Syndrome
De Lange Syndrome
Female
Follow-Up Studies
Fragile X Syndrome
Humans
Male
Middle Aged
Phenotype
Predictive Value of Tests
Young Adult

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10.1352/1944-7558-119.3.235

http://www.scopus.com/inward/record.url?eid=2-s2.0-84902121429&partnerID=40&md5=1435f8ff8060648f9553044ae8636415

Cite this

@article{6438c883c05944e6a327a2975edec352,

title = "A longitudinal follow-up study of affect in children and adults with Cornelia de Lange syndrome",

abstract = "Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure Questionnaire (MIPQ) at Time 1 and 2 years later (Time 2). Scores on the MIPQ were significantly lower in the CdLS group compared with the CdCS and FXS groups at Time 1 and Time 2. Lower MIPQ scores were characteristic of older adolescents (> 15 years) and adults with CdLS. However, there were no significant differences in MIPQ scores between Time 1 and Time 2. Age and insistence on sameness predicted MIPQ scores in CdLS.",

keywords = "Affect, Behavioral phenotypes, Cornelia de Lange syndrome, Follow-up, Longitudinal, adolescent, adult, affect, age, article, behavioral phenotypes, cat cry syndrome, child, comparative study, de Lange syndrome, female, follow up, follow-up, fragile X syndrome, human, longitudinal, male, middle aged, pathophysiology, phenotype, physiology, predictive value, preschool child, young adult, Adolescent, Adult, Age Factors, Child, Child, Preschool, Cri-du-Chat Syndrome, De Lange Syndrome, Female, Follow-Up Studies, Fragile X Syndrome, Humans, Male, Middle Aged, Phenotype, Predictive Value of Tests, Young Adult",

author = "Lisa Nelson and Jo Moss and Chris Oliver",

note = "Export Date: 23 March 2015 Correspondence Address: Nelson, L.; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, Edgbaston B15 2TT, United Kingdom; email: lkc074@bham.ac.uk Funding Details: Cerebra References: Arron, K., Oliver, C., Berg, K., Moss, J., Burbidge, C., Prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes (2011) Journal of Intellectual Disability Research, 55, pp. 109-120; Basile, E., Villa, L., Selicorni, A., Molteni, M., The behavioural phenotype of Cornelia de Lange Syndrome: A study of 56 individuals (2007) Journal of Intellectual Disability Research, 51 (9), pp. 671-681. , DOI 10.1111/j.1365-2788.2007.00977.x; Berg, K., Arron, K., Burbidge, C., Moss, J., Oliver, C., Carer-reported contemporary health problems in people with severe and profound intellectual disability and genetic syndromes (2007) Journal of Policy and Practice in Intellectual Disabilities, 4, pp. 120-128; Berney, T.P., Ireland, M., Burn, J., Behavioural phenotype of Cornelia de Lange syndrome (1999) Archives of Disease in Childhood, 81 (4), pp. 333-336; Berument, S.K., Rutter, M., Lord, C., Pickles, A., Bailey, A., Autism screening questionnaire: Diagnostic validity (1999) British Journal of Psychiatry, 175, pp. 444-451; Bhuiyan, Z.A., Klein, M., Hammond, P., Van Haeringen, A., Mannens, M.M.A.M., Van Berckelaer-Onnes, I., Hennekam, R.C.M., Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience (2006) Journal of Medical Genetics, 43 (7), pp. 568-575. , DOI 10.1136/jmg.2005.038240; Burbidge, C., Oliver, C., Moss, J., Arron, K., Berg, K., Hill, L., Trusler, K., Woodcock, K.A., The association between repetitive behaviours, impulsivity and hyperactivity in people with intellectual disability (2010) Journal of Intellectual Disability Research, 54, pp. 1078-1092; Clifford, S., Dissanayake, C., Bui, Q.M., Huggins, R., Taylor, A.K., Loesch, D.Z., Autism spectrum phenotype in males and females with fragile x full mutation and premutation (2006) Journal of Autism and Developmental Disorders, 37, pp. 738-747; Cohen, J., A power primer (1992) Psychological Bulletin, 112, pp. 155-159; Collis, L., Oliver, C., Moss, J., Low mood and social anxiety in Cornelia de Lange syndrome (2006) Journal of Intellectual Disability Research, 55, p. 792; Cornish, K.M., Bramble, D., Munir, F., Pigram, J., Cognitive functioning in children with typical cri du chat (5p-) syndrome (1999) Developmental Medicine and Child Neurology, 41 (4), pp. 263-266. , DOI 10.1017/S0012162299000559; Cornish, K.M., Munir, F., Receptive and expressive language skills in children with cri-du-chat syndrome (1998) Journal of Communication Disorders, 31 (1), pp. 73-81. , DOI 10.1016/S0021-9924(97)00052-X, PII S002199249700052X; Cornish, K., Scerif, G., Karmiloff-Smith, A., Tracing syndrome-specific trajectories of attention across the lifespan (2007) Cortex, 43 (6), pp. 672-685. , DOI 10.1016/S0010-9452(08)70497-0; Deardorff, M.A., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pie, J., Krantz, I.D., Mutations in cohesin complex members smc3 and smc1a cause a mild variant of cornelia de lange syndrome with predominant mental retardation (2007) American Journal of Human Genetics, 80, pp. 485-494; Dykens, E.M., Hodapp, R.M., Research in mental retardation: Toward an etiologic approach (2001) Journal of Child Psychology and Psychiatry and Allied Disciplines, 42 (1), pp. 49-71. , DOI 10.1017/S0021963001006540; Elison, S., Stinton, C., Howlin, P., Health and social outcomes in adults with williams syndrome: Findings from crosssectional and longitudinal cohorts (2010) Research in Developmental Disabilities, 31, pp. 587-599; Field, A.P., (2005) Discovering Statistics Using SPSS, , (2nd ed.). London, UK: Sage; Fisch, G.S., Simensen, R.J., Schroer, R.J., Longitudinal Changes in Cognitive and Adaptive Behavior Scores in Children and Adolescents with the Fragile X Mutation or Autism (2002) Journal of Autism and Developmental Disorders, 32 (2), pp. 107-114. , DOI 10.1023/A:1014888505185; Ghaziuddin, M., Ghaziuddin, N., Greden, J., Depression in Persons with Autism: Implications for Research and Clinical Care (2002) Journal of Autism and Developmental Disorders, 32 (4), pp. 299-306. , DOI 10.1023/A:1016330802348; Ghaziuddin, M., Greden, J., Depression in children with autism/pervasive developmental disorders: A case-control family history study (1998) Journal of Autism and Developmental Disorders, 28 (2), pp. 111-115. , DOI 10.1023/A:1026036514719; Gillis, L.A., McCallum, J., Kaur, M., DeScipio, C., Yaeger, D., Mariani, A., Kline, A.D., Krantz, I.D., NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations (2004) American Journal of Human Genetics, 75 (4), pp. 610-623. , DOI 10.1086/424698; Hall, S.S., Arron, K., Sloneem, J., Oliver, C., Health and sleep problems in Cornelia de Lange Syndrome: A case control study (2008) Journal of Intellectual Disability Research, 52 (5), pp. 458-468. , DOI 10.1111/j.1365-2788.2008.01047.x; Hatton, D.D., Hooper, S.R., Bailey, D.B., Skinner, M.L., Sullivan, K.M., Wheeler, A., Problem behavior in boys with fragile x syndrome (2002) American Journal of Medical Genetics, 108, pp. 105-116; Hatton, D.D., Sideris, J., Skinner, M., Mankowski, J., Bailey Jr., D.B., Roberts, J., Mirrett, P., Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP (2006) American Journal of Medical Genetics, Part A, 140 (17), pp. 1804-1813. , DOI 10.1002/ajmg.a.31286; Holland, A.J., Hon, J., Huppert, F.A., Stevens, F., Watson, P., Population-based study of the prevalence and presentation of dementia in adults with Down's syndrome (1998) British Journal of Psychiatry, 172 (JUNE), pp. 493-498; Howlin, P., Karpf, J., Using the social communication questionnaire to identify 'autistic spectrum' disorders associated with other genetic conditions: Findings from a study of individuals with Cohen syndrome (2004) Autism, 8 (2), pp. 175-182. , DOI 10.1177/1362361304042721; Howlin, P., Elison, S., Udwin, O., Stinton, C., Cognitive, linguistic and adaptive functioning in williams syndrome: Trajectories from early to middle adulthood (2010) Journal of Applied Research in Intellectual Disabilities, 23, pp. 322-336; Hyman, P., Oliver, C., Hall, S., Self injurious behaviour, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome (2002) American Journal of Mental Retardation, 107, pp. 146-154; Jackson, L., Kline, A.D., Barr, M.A., Koch, S., De Lange syndrome: A clinical review of 310 individuals (1993) American Journal of Medical Genetics, 47 (7), pp. 940-946. , DOI 10.1002/ajmg.1320470703; Kaufmann, W.E., Reiss, A.L., Molecular and cellular genetics of fragile X syndrome (1999) American Journal of Medical Genetics - Neuropsychiatric Genetics, 88 (1), pp. 11-24. , DOI 10.1002/(SICI)1096-8628(19990205)88:1<11::AID-AJMG3>3.0.CO;2-O; Kim, J.A., Szatmari, P., Bryson, S.E., Streiner, D.L., Wilson, F.J., The prevalence of anxiety and mood problems among children with autism and Asperger syndrome (2000) Autism, 4 (2), pp. 117-132; Kline, A.D., Grados, M., Sponseller, P., Levy, H.P., Blagowidow, N., Schoedel, C., Rampolla, J., Tuchman, D., Natural history of aging in Cornelia de Lange syndrome (2007) American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 145 (3), pp. 248-260. , DOI 10.1002/ajmg.c.30137; Kline, A.D., Krantz, I.D., Sommer, A., Kliewer, M., Jackson, L.G., FitzPatrick, D.R., Levin, A.V., Selicorni, A., Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance (2007) American Journal of Medical Genetics, Part A, 143 (12), pp. 1287-1296. , DOI 10.1002/ajmg.a.31757; Krantz, I.D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L.A., Yaeger, D., Jukofsky, L., Jackson, L.G., Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B (2004) Nature Genetics, 36 (6), pp. 631-635. , DOI 10.1038/ng1364; Kushlick, A., Blunden, R., Cox, G., A method of rating behaviour characteristics for use in large scale surveys of mental handicap (1973) Psychological Medicine, 3, pp. 466-478; Lord, C., Rutter, M., Couteur, A.L., Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders (1994) Journal of Autism and Developmental Disorders, 24 (5), pp. 659-685. , DOI 10.1007/BF02172145; Luzzani, S., Macchini, F., Valade, A., Milani, D., Selicorni, A., Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms (2003) American Journal of Medical Genetics, A119 (3), pp. 283-287; Miyake, N., Visser, R., Kinoshita, A., Yoshiura, K.-I., Niikawa, N., Kondoh, T., Matsumoto, N., Kurosawa, K., Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome [1] (2005) American Journal of Medical Genetics, A135 (1), pp. 103-105. , DOI 10.1002/ajmg.a.30637; Moss, J., Howlin, P., Autism spectrum disorders in genetic syndromes: Implications for diagnosis, intervention and understanding the wider autism spectrum disorder population (2009) Journal of Intellectual Disability Research, 53, pp. 852-873; Moss, J., Howlin, P., Magiati, I., Oliver, C., Characteristics of autism spectrum disorder in cornelia de lange syndrome (2012) Journal of Child Psychiatry and Psychology, 53, pp. 882-891; Moss, J., Howlin, P., Oliver, C., The assessment and presentation of autism spectrum disorder and associated characteristics in individuals with severe intellectual disability and genetic syndromes (2011) The Oxford Handbook of Intellectual Disability and Development, pp. 275-302. , J. A. Burack, R. M. Hodapp, G. Iarocci, & E. Zigler. (Eds.), New York: Oxford University Press; Moss, J., Oliver, C., Arron, K., Burbidge, C., Berg, K., The prevalence and phenomenology of repetitive behavior in genetic syndromes (2009) Journal of Autism and Developmental Disorders, 39, pp. 572-588; Moss, J., Oliver, C., Berg, K., Kaur, G., Jephcott, L., Cornish, K., Prevalence of autism spectrum phenomenology in cornelia de lange and cri du chat syndromes (2008) American Journal on Mental Retardation, 113, pp. 278-291; Musio, A., Selicorni, A., Focarelli, M.L., Gervasini, C., Milani, D., Russo, S., Larizza, L., X-linked cornelia de lange syndrome owing to smc1l1 mutations (2006) Nature Genetics, 38, pp. 528-530; Neibuhr, E., The cri-du-chat syndrome (1978) Human Genetics, 42, pp. 143-156; Oliver, C., Arron, K., Sloneem, J., Hall, S., Behavioural phenotype of Cornelia de Lange syndrome (2008) The British Journal of Psychiatry, 193, pp. 466-470; Oliver, C., Berg, K., Moss, J., Arron, K., Burbidge, C., Delineation of behavioral phenotypes in genetic syndromes. Comparison of autism spectrum disorder, affect and hyperactivity (2011) Journal of Autism and Developmental Disorders, 41, pp. 1019-1032; Palmer, J., Jenkins, J., The 'Wessex' behaviour rating system for mentally handicapped people: Reliability study (1982) British Journal of Mental Subnormality, II28 (55), pp. 88-96; Roberts, J.E., Weisenfeld, L.A.H., Hatton, D.D., Heath, M., Kaufmann, W.E., Social approach and autistic behavior in children with fragile X syndrome (2007) Journal of Autism and Developmental Disorders, 37 (9), pp. 1748-1760. , DOI 10.1007/s10803-006-0305-9; Ross, E., Oliver, C., Preliminary analysis of the psychometric properties of the Mood, Interest & Pleasure Questionnaire (MIPQ) for adults with severe and profound learning disabilities (2003) British Journal of Clinical Psychology, 42 (1), pp. 81-93. , DOI 10.1348/014466503762842039; Ross, E., Arron, K., Oliver, C., (2008) The Mood Interest and Pleasure Questionnaire. Manual for Administration and Scoring, , University of Birmingham; Rutter, M., Bailey, A., Berument, S.K., Lord, C., Pickles, A., (2003) Social Communication Questionnaire (SCQ), , Los Angeles, CA: Western Psychological Services; Sarimski, K., Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome (1997) Journal of Intellectual Disability Research, 41 (1), pp. 70-75. , DOI 10.1111/j.1365-2788.1997.tb00678.x; Sarimski, K., Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome (2002) Journal of Communication Disorders, 35 (6), pp. 483-500. , DOI 10.1016/S0021-9924(02)00117-X, PII S002199240200117X; Stinton, C., Elison, S., Howlin, P., Mental health problems in adults with williams syndrome (2010) American Journal on Intellectual and Developmental Disabilities, 115, pp. 3-18; Thomasm, S.C., Annaz, D., Ansari, D., Serif, G., Jarrold, C., Karmiloff-Smith, A., Using developmental trajectories to understand developmental disorders (2009) Journal of Speech, Language, and Hearing Research, 52, pp. 336-358; Tonkin, E.T., Wang, T.-J., Lisgo, S., Bamshad, M.J., Strachan, T., NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome (2004) Nature Genetics, 36 (6), pp. 636-641. , DOI 10.1038/ng1363; Turner, G., Webb, T., Wake, S., Robinson, H., Prevalence of fragile x syndrome (1996) American Journal of Medical Genetics, 64, pp. 196-197; Van Allen, M.I., Filippi, G., Siegel-Bartelt, J., Yong, S.-L., McGillivray, B., Zuker, R.M., Smith, C.R., Reynolds, J.F., Clinical variability within Brachmann-de Lange syndrome: A proposed classification system (1993) American Journal of Medical Genetics, 47 (7), pp. 947-958. , DOI 10.1002/ajmg.1320470704; Verkerk, A.J.M.H., Pieretti, M., Sutcliffe, J.S., Fu, Y.-H., Kuhl, D.P.A., Pizzuti, A., Reiner, O., Warren, S.T., Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome (1991) Cell, 65 (5), pp. 905-914",

year = "2014",

month = may,

doi = "10.1352/1944-7558-119.3.235",

language = "English",

volume = "119",

pages = "235--252",

journal = "American Journal on Intellectual and Developmental Disabilities",

issn = "1944-7515",

publisher = "American Association on Intellectual and Developmental Disabilities",

number = "3",

}

TY - JOUR

T1 - A longitudinal follow-up study of affect in children and adults with Cornelia de Lange syndrome

AU - Nelson, Lisa

AU - Moss, Jo

AU - Oliver, Chris

N1 - Export Date: 23 March 2015 Correspondence Address: Nelson, L.; Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, Edgbaston B15 2TT, United Kingdom; email: lkc074@bham.ac.uk Funding Details: Cerebra References: Arron, K., Oliver, C., Berg, K., Moss, J., Burbidge, C., Prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes (2011) Journal of Intellectual Disability Research, 55, pp. 109-120; Basile, E., Villa, L., Selicorni, A., Molteni, M., The behavioural phenotype of Cornelia de Lange Syndrome: A study of 56 individuals (2007) Journal of Intellectual Disability Research, 51 (9), pp. 671-681. , DOI 10.1111/j.1365-2788.2007.00977.x; Berg, K., Arron, K., Burbidge, C., Moss, J., Oliver, C., Carer-reported contemporary health problems in people with severe and profound intellectual disability and genetic syndromes (2007) Journal of Policy and Practice in Intellectual Disabilities, 4, pp. 120-128; Berney, T.P., Ireland, M., Burn, J., Behavioural phenotype of Cornelia de Lange syndrome (1999) Archives of Disease in Childhood, 81 (4), pp. 333-336; Berument, S.K., Rutter, M., Lord, C., Pickles, A., Bailey, A., Autism screening questionnaire: Diagnostic validity (1999) British Journal of Psychiatry, 175, pp. 444-451; Bhuiyan, Z.A., Klein, M., Hammond, P., Van Haeringen, A., Mannens, M.M.A.M., Van Berckelaer-Onnes, I., Hennekam, R.C.M., Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: The Dutch experience (2006) Journal of Medical Genetics, 43 (7), pp. 568-575. , DOI 10.1136/jmg.2005.038240; Burbidge, C., Oliver, C., Moss, J., Arron, K., Berg, K., Hill, L., Trusler, K., Woodcock, K.A., The association between repetitive behaviours, impulsivity and hyperactivity in people with intellectual disability (2010) Journal of Intellectual Disability Research, 54, pp. 1078-1092; Clifford, S., Dissanayake, C., Bui, Q.M., Huggins, R., Taylor, A.K., Loesch, D.Z., Autism spectrum phenotype in males and females with fragile x full mutation and premutation (2006) Journal of Autism and Developmental Disorders, 37, pp. 738-747; Cohen, J., A power primer (1992) Psychological Bulletin, 112, pp. 155-159; Collis, L., Oliver, C., Moss, J., Low mood and social anxiety in Cornelia de Lange syndrome (2006) Journal of Intellectual Disability Research, 55, p. 792; Cornish, K.M., Bramble, D., Munir, F., Pigram, J., Cognitive functioning in children with typical cri du chat (5p-) syndrome (1999) Developmental Medicine and Child Neurology, 41 (4), pp. 263-266. , DOI 10.1017/S0012162299000559; Cornish, K.M., Munir, F., Receptive and expressive language skills in children with cri-du-chat syndrome (1998) Journal of Communication Disorders, 31 (1), pp. 73-81. , DOI 10.1016/S0021-9924(97)00052-X, PII S002199249700052X; Cornish, K., Scerif, G., Karmiloff-Smith, A., Tracing syndrome-specific trajectories of attention across the lifespan (2007) Cortex, 43 (6), pp. 672-685. , DOI 10.1016/S0010-9452(08)70497-0; Deardorff, M.A., Kaur, M., Yaeger, D., Rampuria, A., Korolev, S., Pie, J., Krantz, I.D., Mutations in cohesin complex members smc3 and smc1a cause a mild variant of cornelia de lange syndrome with predominant mental retardation (2007) American Journal of Human Genetics, 80, pp. 485-494; Dykens, E.M., Hodapp, R.M., Research in mental retardation: Toward an etiologic approach (2001) Journal of Child Psychology and Psychiatry and Allied Disciplines, 42 (1), pp. 49-71. , DOI 10.1017/S0021963001006540; Elison, S., Stinton, C., Howlin, P., Health and social outcomes in adults with williams syndrome: Findings from crosssectional and longitudinal cohorts (2010) Research in Developmental Disabilities, 31, pp. 587-599; Field, A.P., (2005) Discovering Statistics Using SPSS, , (2nd ed.). London, UK: Sage; Fisch, G.S., Simensen, R.J., Schroer, R.J., Longitudinal Changes in Cognitive and Adaptive Behavior Scores in Children and Adolescents with the Fragile X Mutation or Autism (2002) Journal of Autism and Developmental Disorders, 32 (2), pp. 107-114. , DOI 10.1023/A:1014888505185; Ghaziuddin, M., Ghaziuddin, N., Greden, J., Depression in Persons with Autism: Implications for Research and Clinical Care (2002) Journal of Autism and Developmental Disorders, 32 (4), pp. 299-306. , DOI 10.1023/A:1016330802348; Ghaziuddin, M., Greden, J., Depression in children with autism/pervasive developmental disorders: A case-control family history study (1998) Journal of Autism and Developmental Disorders, 28 (2), pp. 111-115. , DOI 10.1023/A:1026036514719; Gillis, L.A., McCallum, J., Kaur, M., DeScipio, C., Yaeger, D., Mariani, A., Kline, A.D., Krantz, I.D., NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations (2004) American Journal of Human Genetics, 75 (4), pp. 610-623. , DOI 10.1086/424698; Hall, S.S., Arron, K., Sloneem, J., Oliver, C., Health and sleep problems in Cornelia de Lange Syndrome: A case control study (2008) Journal of Intellectual Disability Research, 52 (5), pp. 458-468. , DOI 10.1111/j.1365-2788.2008.01047.x; Hatton, D.D., Hooper, S.R., Bailey, D.B., Skinner, M.L., Sullivan, K.M., Wheeler, A., Problem behavior in boys with fragile x syndrome (2002) American Journal of Medical Genetics, 108, pp. 105-116; Hatton, D.D., Sideris, J., Skinner, M., Mankowski, J., Bailey Jr., D.B., Roberts, J., Mirrett, P., Autistic behavior in children with fragile X syndrome: Prevalence, stability, and the impact of FMRP (2006) American Journal of Medical Genetics, Part A, 140 (17), pp. 1804-1813. , DOI 10.1002/ajmg.a.31286; Holland, A.J., Hon, J., Huppert, F.A., Stevens, F., Watson, P., Population-based study of the prevalence and presentation of dementia in adults with Down's syndrome (1998) British Journal of Psychiatry, 172 (JUNE), pp. 493-498; Howlin, P., Karpf, J., Using the social communication questionnaire to identify 'autistic spectrum' disorders associated with other genetic conditions: Findings from a study of individuals with Cohen syndrome (2004) Autism, 8 (2), pp. 175-182. , DOI 10.1177/1362361304042721; Howlin, P., Elison, S., Udwin, O., Stinton, C., Cognitive, linguistic and adaptive functioning in williams syndrome: Trajectories from early to middle adulthood (2010) Journal of Applied Research in Intellectual Disabilities, 23, pp. 322-336; Hyman, P., Oliver, C., Hall, S., Self injurious behaviour, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome (2002) American Journal of Mental Retardation, 107, pp. 146-154; Jackson, L., Kline, A.D., Barr, M.A., Koch, S., De Lange syndrome: A clinical review of 310 individuals (1993) American Journal of Medical Genetics, 47 (7), pp. 940-946. , DOI 10.1002/ajmg.1320470703; Kaufmann, W.E., Reiss, A.L., Molecular and cellular genetics of fragile X syndrome (1999) American Journal of Medical Genetics - Neuropsychiatric Genetics, 88 (1), pp. 11-24. , DOI 10.1002/(SICI)1096-8628(19990205)88:1<11::AID-AJMG3>3.0.CO;2-O; Kim, J.A., Szatmari, P., Bryson, S.E., Streiner, D.L., Wilson, F.J., The prevalence of anxiety and mood problems among children with autism and Asperger syndrome (2000) Autism, 4 (2), pp. 117-132; Kline, A.D., Grados, M., Sponseller, P., Levy, H.P., Blagowidow, N., Schoedel, C., Rampolla, J., Tuchman, D., Natural history of aging in Cornelia de Lange syndrome (2007) American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 145 (3), pp. 248-260. , DOI 10.1002/ajmg.c.30137; Kline, A.D., Krantz, I.D., Sommer, A., Kliewer, M., Jackson, L.G., FitzPatrick, D.R., Levin, A.V., Selicorni, A., Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance (2007) American Journal of Medical Genetics, Part A, 143 (12), pp. 1287-1296. , DOI 10.1002/ajmg.a.31757; Krantz, I.D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L.A., Yaeger, D., Jukofsky, L., Jackson, L.G., Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B (2004) Nature Genetics, 36 (6), pp. 631-635. , DOI 10.1038/ng1364; Kushlick, A., Blunden, R., Cox, G., A method of rating behaviour characteristics for use in large scale surveys of mental handicap (1973) Psychological Medicine, 3, pp. 466-478; Lord, C., Rutter, M., Couteur, A.L., Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders (1994) Journal of Autism and Developmental Disorders, 24 (5), pp. 659-685. , DOI 10.1007/BF02172145; Luzzani, S., Macchini, F., Valade, A., Milani, D., Selicorni, A., Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms (2003) American Journal of Medical Genetics, A119 (3), pp. 283-287; Miyake, N., Visser, R., Kinoshita, A., Yoshiura, K.-I., Niikawa, N., Kondoh, T., Matsumoto, N., Kurosawa, K., Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome [1] (2005) American Journal of Medical Genetics, A135 (1), pp. 103-105. , DOI 10.1002/ajmg.a.30637; Moss, J., Howlin, P., Autism spectrum disorders in genetic syndromes: Implications for diagnosis, intervention and understanding the wider autism spectrum disorder population (2009) Journal of Intellectual Disability Research, 53, pp. 852-873; Moss, J., Howlin, P., Magiati, I., Oliver, C., Characteristics of autism spectrum disorder in cornelia de lange syndrome (2012) Journal of Child Psychiatry and Psychology, 53, pp. 882-891; Moss, J., Howlin, P., Oliver, C., The assessment and presentation of autism spectrum disorder and associated characteristics in individuals with severe intellectual disability and genetic syndromes (2011) The Oxford Handbook of Intellectual Disability and Development, pp. 275-302. , J. A. Burack, R. M. Hodapp, G. Iarocci, & E. Zigler. (Eds.), New York: Oxford University Press; Moss, J., Oliver, C., Arron, K., Burbidge, C., Berg, K., The prevalence and phenomenology of repetitive behavior in genetic syndromes (2009) Journal of Autism and Developmental Disorders, 39, pp. 572-588; Moss, J., Oliver, C., Berg, K., Kaur, G., Jephcott, L., Cornish, K., Prevalence of autism spectrum phenomenology in cornelia de lange and cri du chat syndromes (2008) American Journal on Mental Retardation, 113, pp. 278-291; Musio, A., Selicorni, A., Focarelli, M.L., Gervasini, C., Milani, D., Russo, S., Larizza, L., X-linked cornelia de lange syndrome owing to smc1l1 mutations (2006) Nature Genetics, 38, pp. 528-530; Neibuhr, E., The cri-du-chat syndrome (1978) Human Genetics, 42, pp. 143-156; Oliver, C., Arron, K., Sloneem, J., Hall, S., Behavioural phenotype of Cornelia de Lange syndrome (2008) The British Journal of Psychiatry, 193, pp. 466-470; Oliver, C., Berg, K., Moss, J., Arron, K., Burbidge, C., Delineation of behavioral phenotypes in genetic syndromes. Comparison of autism spectrum disorder, affect and hyperactivity (2011) Journal of Autism and Developmental Disorders, 41, pp. 1019-1032; Palmer, J., Jenkins, J., The 'Wessex' behaviour rating system for mentally handicapped people: Reliability study (1982) British Journal of Mental Subnormality, II28 (55), pp. 88-96; Roberts, J.E., Weisenfeld, L.A.H., Hatton, D.D., Heath, M., Kaufmann, W.E., Social approach and autistic behavior in children with fragile X syndrome (2007) Journal of Autism and Developmental Disorders, 37 (9), pp. 1748-1760. , DOI 10.1007/s10803-006-0305-9; Ross, E., Oliver, C., Preliminary analysis of the psychometric properties of the Mood, Interest & Pleasure Questionnaire (MIPQ) for adults with severe and profound learning disabilities (2003) British Journal of Clinical Psychology, 42 (1), pp. 81-93. , DOI 10.1348/014466503762842039; Ross, E., Arron, K., Oliver, C., (2008) The Mood Interest and Pleasure Questionnaire. Manual for Administration and Scoring, , University of Birmingham; Rutter, M., Bailey, A., Berument, S.K., Lord, C., Pickles, A., (2003) Social Communication Questionnaire (SCQ), , Los Angeles, CA: Western Psychological Services; Sarimski, K., Communication, social-emotional development and parenting stress in Cornelia-de-Lange syndrome (1997) Journal of Intellectual Disability Research, 41 (1), pp. 70-75. , DOI 10.1111/j.1365-2788.1997.tb00678.x; Sarimski, K., Analysis of intentional communication in severely handicapped children with Cornelia-de-Lange syndrome (2002) Journal of Communication Disorders, 35 (6), pp. 483-500. , DOI 10.1016/S0021-9924(02)00117-X, PII S002199240200117X; Stinton, C., Elison, S., Howlin, P., Mental health problems in adults with williams syndrome (2010) American Journal on Intellectual and Developmental Disabilities, 115, pp. 3-18; Thomasm, S.C., Annaz, D., Ansari, D., Serif, G., Jarrold, C., Karmiloff-Smith, A., Using developmental trajectories to understand developmental disorders (2009) Journal of Speech, Language, and Hearing Research, 52, pp. 336-358; Tonkin, E.T., Wang, T.-J., Lisgo, S., Bamshad, M.J., Strachan, T., NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome (2004) Nature Genetics, 36 (6), pp. 636-641. , DOI 10.1038/ng1363; Turner, G., Webb, T., Wake, S., Robinson, H., Prevalence of fragile x syndrome (1996) American Journal of Medical Genetics, 64, pp. 196-197; Van Allen, M.I., Filippi, G., Siegel-Bartelt, J., Yong, S.-L., McGillivray, B., Zuker, R.M., Smith, C.R., Reynolds, J.F., Clinical variability within Brachmann-de Lange syndrome: A proposed classification system (1993) American Journal of Medical Genetics, 47 (7), pp. 947-958. , DOI 10.1002/ajmg.1320470704; Verkerk, A.J.M.H., Pieretti, M., Sutcliffe, J.S., Fu, Y.-H., Kuhl, D.P.A., Pizzuti, A., Reiner, O., Warren, S.T., Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome (1991) Cell, 65 (5), pp. 905-914

PY - 2014/5

Y1 - 2014/5

N2 - Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure Questionnaire (MIPQ) at Time 1 and 2 years later (Time 2). Scores on the MIPQ were significantly lower in the CdLS group compared with the CdCS and FXS groups at Time 1 and Time 2. Lower MIPQ scores were characteristic of older adolescents (> 15 years) and adults with CdLS. However, there were no significant differences in MIPQ scores between Time 1 and Time 2. Age and insistence on sameness predicted MIPQ scores in CdLS.

AB - Studies of individuals with Cornelia de Lange syndrome (CdLS) have described changes in mood and behavior with age, although no empirical or longitudinal studies have been conducted. Caregivers of individuals with CdLS (N = 67), cri du chat syndrome (CdCS; N = 42), and Fragile X syndrome (FXS; N = 142) completed the Mood, Interest and Pleasure Questionnaire (MIPQ) at Time 1 and 2 years later (Time 2). Scores on the MIPQ were significantly lower in the CdLS group compared with the CdCS and FXS groups at Time 1 and Time 2. Lower MIPQ scores were characteristic of older adolescents (> 15 years) and adults with CdLS. However, there were no significant differences in MIPQ scores between Time 1 and Time 2. Age and insistence on sameness predicted MIPQ scores in CdLS.

KW - Affect

KW - Behavioral phenotypes

KW - Cornelia de Lange syndrome

KW - Follow-up

KW - Longitudinal

KW - adolescent

KW - adult

KW - affect

KW - age

KW - article

KW - behavioral phenotypes

KW - cat cry syndrome

KW - child

KW - comparative study

KW - de Lange syndrome

KW - female

KW - follow up

KW - follow-up

KW - fragile X syndrome

KW - human

KW - longitudinal

KW - male

KW - middle aged

KW - pathophysiology

KW - phenotype

KW - physiology

KW - predictive value

KW - preschool child

KW - young adult

KW - Adolescent

KW - Adult

KW - Age Factors

KW - Child

KW - Child, Preschool

KW - Cri-du-Chat Syndrome

KW - De Lange Syndrome

KW - Female

KW - Follow-Up Studies

KW - Fragile X Syndrome

KW - Humans

KW - Male

KW - Middle Aged

KW - Phenotype

KW - Predictive Value of Tests

KW - Young Adult

U2 - 10.1352/1944-7558-119.3.235

DO - 10.1352/1944-7558-119.3.235

M3 - Article

C2 - 24871792

SN - 1944-7515

VL - 119

SP - 235

EP - 252

JO - American Journal on Intellectual and Developmental Disabilities

JF - American Journal on Intellectual and Developmental Disabilities

IS - 3

ER -

A longitudinal follow-up study of affect in children and adults with Cornelia de Lange syndrome

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