{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T05:38:13Z","timestamp":1777354693050,"version":"3.51.4"},"reference-count":53,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,15]],"date-time":"2023-08-15T00:00:00Z","timestamp":1692057600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>(1) Background: 5p minus Syndrome (S5p-) is a neurodevelopmental disorder caused by a deletion in the short arm of chromosome 5. Among the phenotypic characteristics of S5p-, the most characteristic and representative element is a monochromatic cry with a high-pitched tone reminiscent of a cat\u2019s meow. Individuals may also show great phenotypic heterogeneity and great genetic variability. Regarding cognitive\u2013behavioral aspects of the syndrome, the studies are scarce and do not establish a general profile of the main cognitive\u2013behavioral particularities that this syndrome presents. The main objective of this work was to describe the development profile of a cohort of 45 children with 5p minus Syndrome, concerning the biomedical, genetic, cognitive, and behavioral aspects. Establishing putative genotype\u2013phenotype (cognitive\u2013behavioral profiles) relationships in our cohort, from an interdisciplinary approach. (2) Methods: A selection of instruments of measures was selected for neuropsychological assessment (3) Results: In general, children with S5p- have a higher cognitive level than a communicative and motor level. Language difficulties, especially expressive ones, influence the frequency and severity of the most frequent behavioral problems in S5p. The most significant problem behavior of children with S5p-, especially girls, is self-harm. Compulsive behavior, limited preferences, and interest in monotony are significantly more frequent in subjects with better cognitive levels. We also find a significant correlation between the size of the loss of genetic material on 5p and the cognitive level of the subjects. (4) Conclusions: We described for the first time, the cognitive\u2013behavioral profile of a cohort of minors with S5p-. Remarkably, it was found that language, especially of an expressive nature, modulates the most frequent behavioral aspects in subjects with lower cognitive levels, so it is essential to develop verbal or alternative communication strategies adjusted to these individuals.<\/jats:p>","DOI":"10.3390\/genes14081628","type":"journal-article","created":{"date-parts":[[2023,8,15]],"date-time":"2023-08-15T11:06:16Z","timestamp":1692097576000},"page":"1628","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Cognitive\u2013Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype\u2013Phenotype Correlationships"],"prefix":"10.3390","volume":"14","author":[{"given":"Cristina","family":"Bel-Fenell\u00f3s","sequence":"first","affiliation":[{"name":"Departamento Investigaci\u00f3n y Psicolog\u00eda en Educaci\u00f3n, Facultad de Educaci\u00f3n, Universidad Complutense, 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal","family":"Biencinto-L\u00f3pez","sequence":"additional","affiliation":[{"name":"Departamento Investigaci\u00f3n y Psicolog\u00eda en Educaci\u00f3n, Facultad de Educaci\u00f3n, Universidad Complutense, 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3959-880X","authenticated-orcid":false,"given":"Bel\u00e9n","family":"S\u00e1enz-Rico","sequence":"additional","affiliation":[{"name":"Departamento de Estudios Educativos, Facultad de Educaci\u00f3n, Universidad Complutense de Madrid, 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1078-2328","authenticated-orcid":false,"given":"Adolfo","family":"Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Departamento Econom\u00eda Financiera y Actuarial y Estad\u00edstica, Facultad de Comercio y Turismo, Universidad Complutense, 28040 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2702-5625","authenticated-orcid":false,"given":"Ana Karen","family":"Sandoval-Talamantes","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, 28046 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5308-2316","authenticated-orcid":false,"given":"Jair","family":"Tenorio-Casta\u00f1o","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"},{"name":"ITHACA, European Reference Network, Hospital la Paz, 28046 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6324-4825","authenticated-orcid":false,"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"},{"name":"ITHACA, European Reference Network, Hospital la Paz, 28046 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5611-2659","authenticated-orcid":false,"given":"Juli\u00e1n","family":"Nevado","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, 28046 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain"},{"name":"ITHACA, European Reference Network, Hospital la Paz, 28046 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,15]]},"reference":[{"key":"ref_1","first-page":"3098","article-title":"Trois case de deletion partielle du bras court d\u2019un chromosome 5","volume":"257","author":"Lejeune","year":"1963","journal-title":"C. R. Hebd. S\u00e9ances L\u2019Acad. Sci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/j.ejmg.2014.02.005","article-title":"A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome","volume":"57","author":"Elmakky","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Gu, H., Jiang, J.H., Li, J.Y., Zhang, Y.N., Dong, X.S., Huang, Y.Y., Son, X.M., Lu, X., and Chen, Z. (2013). A familial cri-du-chat\/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (ccrs) and\/or possible chromosome 5p chromothripsis. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0076985"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"e1312","DOI":"10.1002\/mgg3.1312","article-title":"Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome","volume":"8","author":"Peng","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1093\/hmg\/4.2.295","article-title":"Five novel genes from the cri-du-chat critical region isolated by direct selection","volume":"4","author":"Simmons","year":"1995","journal-title":"Hum. Mol. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1093\/hmg\/3.2.247","article-title":"Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri-du-chat syndrome","volume":"3","author":"Overhauser","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1615","DOI":"10.1038\/ejhg.2015.51","article-title":"PIAS4 is associated with macro\/microcephaly in the novel interstitial 19p13.3 microdeletion\/microduplication syndrome","volume":"23","author":"Nevado","year":"2015","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1017\/S0012162299000559","article-title":"Cognitive functioning in children with typical cri du chat (5p-) syndrome","volume":"41","author":"Cornish","year":"1999","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_9","unstructured":"Wechsler, D. (1991). Wechsler Intelligence Scale for Children, Psychological Corporation. [3rd ed.]."},{"key":"ref_10","unstructured":"Dunn, L.M., Dunn, L.M., Whetton, C., and Pintilie, D. (1982). The British Picture Vocabulary Scale, NFER-Nelson."},{"key":"ref_11","unstructured":"Bishop, D. (2003). Test for Reception of Grammar, Version 2 (TROG2), Pearson Assessment."},{"key":"ref_12","unstructured":"Gardner, M.F. (1990). Receptive One-Word Picture Vocabulary Test, Academic Therapy."},{"key":"ref_13","unstructured":"Reynell, J. (1985). Escala Para Evaluar el Desarrollo del Lenguaje, Mepsa."},{"key":"ref_14","unstructured":"Goldman, R., and Fristoe, M. (1986). Goldman-Fristoe Test of Articulation, American Guidance Services."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1111\/j.1469-8749.1997.tb07377.x","article-title":"Correlates of maladaptive behavior in individuals with 5p-(cri du chat) syndrome","volume":"39","author":"Dykens","year":"1997","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_16","first-page":"217","article-title":"Comparison of Assessment Results of Children with Low Incidence Disabilities","volume":"43","author":"Campbell","year":"2008","journal-title":"Educ. Train. Dev. Disabil."},{"key":"ref_17","first-page":"71","article-title":"Hallazgo inesperado de s\u00edndrome cri du chat en una paciente adulta mediante array-CGH","volume":"59","year":"2014","journal-title":"Rev. Neurol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1007\/s10038-004-0213-9","article-title":"Genotype-phenotype correlation of 5p-syndrome: Pitfall of diagnosis","volume":"50","author":"Kondoh","year":"2005","journal-title":"J. Hum. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<203::AID-AJMG5>3.0.CO;2-A","article-title":"Cri du chat syndrome: Changing phenotype in older patients","volume":"90","author":"Pijkels","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1136\/jmg.37.2.125","article-title":"5p14 deletion associated with microcephaly and seizures","volume":"37","author":"Johnson","year":"2000","journal-title":"J. Med. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1111\/j.1469-8749.1996.tb15050.x","article-title":"The neuropsychological profile of Cri du Chat Syndrome without significant learning disability","volume":"38","author":"Cornish","year":"1996","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_22","unstructured":"Fraser, E.W.I. (1990). Key Issues in Mental Retardation Research, Proceedings of the 8th World Congress of the International Association for the Scientific Study of Mental Deficiency, Dublin, Ireland, 21\u201325 Agust 1988, Blackwell."},{"key":"ref_23","first-page":"283","article-title":"The Aberrant Behavior Checklist Community: Factor validity and effect of subject variables for adults in group homes","volume":"100","author":"Aman","year":"1995","journal-title":"Am. J. Ment. Retard."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1136\/adc.75.5.448","article-title":"Developmental and behavioural characteristics of cri-du-chat syndrome","volume":"75","author":"Cornish","year":"1996","journal-title":"Arch. Dis. Child."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1046\/j.1365-2788.2002.00361.x","article-title":"A survey of the prevalence of stereotypy, self-injury, and aggression in children and young adults with Cri du Chat syndrome","volume":"46","author":"Collins","year":"2002","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1046\/j.1365-2788.2003.00448.x","article-title":"Early play behaviour in children with 5p-(Cri-du-Chat) syndrome","volume":"47","author":"Sarimski","year":"2003","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1111\/j.1365-2788.2009.01197.x","article-title":"Autism spectrum disorders in genetic syndromes: Implications for diagnosis, intervention and understanding the wider ASD population","volume":"53","author":"Moss","year":"2009","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1111\/jir.12476","article-title":"Cri du Chat syndrome: Characteristics of 73 Brazilian patients","volume":"62","author":"Honjo","year":"2018","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1111\/j.1365-2788.2010.01377.x","article-title":"A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome","volume":"55","author":"Teixeira","year":"2011","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_30","unstructured":"Cornish, K., Oliver, C., Standen, P., Bramble, D., and Collins, M. (2003). Cri-Du-Chat Syndrome: Handbook for Parents and Professionals, Cri du Chat Syndrome Support Group. [2nd ed.]."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1016\/S0022-3476(80)80189-2","article-title":"Psychomotor development in 65 home-reared children with cri-du-chat s\u00edndrome","volume":"97","author":"Wilkins","year":"1980","journal-title":"J. Pediatr."},{"key":"ref_32","unstructured":"Doll, E.A., and Vineland, N.J. (1965). Vineland Social Maturity Scale: Condensed Manual of Directions, American Guidance Service."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/j.tig.2007.06.003","article-title":"Rethinking the nature of genetic vulnerability to autistic spectrum disorders","volume":"23","author":"Skuse","year":"2007","journal-title":"Trends Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1007\/s10803-008-0655-6","article-title":"The prevalence and phenomenology of repetitive behavior in genetic syndromes","volume":"39","author":"Moss","year":"2009","journal-title":"J. Autism Dev. Disord."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1352\/1944-7558-116.4.278","article-title":"Association between fatigue and autistic symptoms in children with Cri du Chat syndrome","volume":"116","author":"Claro","year":"2011","journal-title":"Am. J. Intellect. Dev. Disabil."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1352\/0895-8017(2008)113[278:POASPI]2.0.CO;2","article-title":"Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes","volume":"113","author":"Moss","year":"2008","journal-title":"Am. J. Ment. Retard."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1352\/1944-7558-118.4.262","article-title":"Social behavior and characteristics of autism spectrum disorder in Angelman, Cornelia de Lange and Cri du Chat syndromes","volume":"118","author":"Moss","year":"2013","journal-title":"Am. J. Intellect. Dev. Disabil."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1002\/ajmg.c.31438","article-title":"Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up","volume":"169","author":"Cochran","year":"2015","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"key":"ref_39","unstructured":"Newborg, J., Stock, J.R., and Wnek, L. (1996). Inventario de Desarrollo Battelle, TEA Ediciones."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1023\/A:1013299028321","article-title":"The Behavior Problems Inventory: An instrument for the assessment of self-injury, stereotyped behavior, and aggression\/destruction in individuals with developmental disabilities","volume":"31","author":"Rojahn","year":"2001","journal-title":"J. Autism Dev. Disord."},{"key":"ref_41","unstructured":"Moss, J., and Oliver, C. (2008). Manual for Administration and Scorer Interpretation, University of Birmingham."},{"key":"ref_42","unstructured":"Matson, J. (1995). The Diagnostic Assessment for Several Handicapped II, Scientific Publishers Inc."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/S0021-9924(97)00052-X","article-title":"Receptive and expressive language skills in children with cri du Chat syndrome","volume":"31","author":"Cornish","year":"1998","journal-title":"J. Commun. Disord."},{"key":"ref_44","unstructured":"Echeverr\u00eda, A., and M\u00ednguez, P. (2000). S\u00edndrome de \u201cMaullido de Gato\u201d, Gu\u00eda Para Padres y Educadores, Consejer\u00eda de Sanidad, Gobierno de Catabria."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1034\/j.1399-0004.2000.570612.x","article-title":"Psychomotor development in Cri du Chat Syndrome","volume":"57","author":"Guala","year":"2000","journal-title":"Clin. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"3125283","DOI":"10.1155\/2016\/3125283","article-title":"Psychomotor Development in Cri du Chat Syndrome: Comparison in Two Italian Cohorts with Different Rehabilitation Methods","volume":"2016","author":"Guala","year":"2016","journal-title":"Sci. World J."},{"key":"ref_47","unstructured":"Carr, E.G., Levin, L., McConnachie, G., Carlson, J., Kemp, D., and Smith, C. (1996). Intervenci\u00f3n Comunicativa Sobre los Problemas de Comportamiento, Alianza Editorial."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1111\/j.1365-2788.2011.01507.x","article-title":"The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: Part I: Development and provisional clinical reference data","volume":"56","author":"Rojahn","year":"2011","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1111\/j.1365-2788.2011.01506.x","article-title":"The Behavior Problems Inventory-Short Form for individuals with intellectual disabilities: Part II: Reliability and validity","volume":"56","author":"Rojahn","year":"2012","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/S0022-3476(83)80179-6","article-title":"Clinical heterogeneity in 80 home-reared children with cri-du-chat syndrome","volume":"102","author":"Wilkins","year":"1983","journal-title":"J. Paediatr."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1136\/jmg.38.3.151","article-title":"Clinical and molecular characterisation of 80 patients with 5p deletion: Genotype-phenotype correlation","volume":"38","author":"Perfumo","year":"2001","journal-title":"J. Med. Genet."},{"key":"ref_52","first-page":"5467083","article-title":"Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients","volume":"2016","author":"Moreira","year":"2016","journal-title":"BioMed Res. Int."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1002\/1096-8628(20000911)94:2<153::AID-AJMG8>3.0.CO;2-#","article-title":"Growth charts for cri-du-chat syndrome: An international collaborative study","volume":"94","author":"Marinescu","year":"2000","journal-title":"Am. J. Med. Genet."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/8\/1628\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:34:06Z","timestamp":1760128446000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/8\/1628"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,15]]},"references-count":53,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2023,8]]}},"alternative-id":["genes14081628"],"URL":"https:\/\/doi.org\/10.3390\/genes14081628","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,15]]}}}