{"orpha":168782,"name":"Childhood disintegrative disorder","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Dementia infantilis","Heller syndrome"],"definition":"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168782/","orphanet_url":"https://www.orpha.net/en/disease/detail/168782","names":{"fr":{"name":"Syndrome désintégratif de l'enfance","synonyms":["Démence infantile","Syndrome de Heller"],"definition":"Le syndrome désintégratif de l'enfance est un trouble envahissant du développement rare. Les premières manifestions de la maladie surviennent avant l'âge de 3 ans et sont caractérisées par une perte des acquisitions préalables après au moins 2 ans de développement normal. Les manifestations de la maladie incluent une perte de la parole, une incontinence, des problèmes de communication et d'interaction sociale, des comportements stéréotypés de type autistique et une démence."},"de":{"name":"Desintegrative Störung der Kindheit","synonyms":["Dementia Infantilis","Heller-Syndrom"],"definition":"Die Desintegrative Störung des Kindesalters ist eine seltene, universelle Entwicklungsstörung mit Beginn vor dem Alter von 3 Jahren. Sie ist gekennzeichnet durch einen dramatischen Verlust von Verhaltensfunktionen und Entwicklungsleistungen nach mindestens 2 Jahren mit normaler Entwicklung. Symptome sind Verlust der Sprache, Inkontinenz, Störung der Kommunikation und sozialen Interaktion, Stereotypien, autistoides Verhalten, Demenz."},"es":{"name":"Trastorno desintegrativo infantil","synonyms":["Demencia infantil","Dementia infantilis","Síndrome de Heller"],"definition":"El trastorno desintegrativo de la infancia es un trastorno generalizado del desarrollo poco frecuente, con una edad de aparición anterior a los tres años, y que se caracteriza por una pérdida drástica del funcionamiento de la conducta y del desarrollo tras al menos dos años de desarrollo normal. Las manifestaciones de la enfermedad incluyen pérdida del habla, incontinencia, problemas de comunicación e interacción social, comportamientos autistas estereotipados y demencia."},"it":{"name":"Disturbo disintegrativo dell'infanzia","synonyms":["Demenza infantile","Sindrome di Heller"],"definition":"La malattia disintegrativa dell'infanzia è un raro disturbo pervasivo dello sviluppo, che esordisce prima dei tre anni e si caratterizza per una regressione significativa nel comportamento e dello sviluppo, successivamente ad almeno due anni di sviluppo normale. I sintomi comprendono la perdita del linguaggio, l'incontinenza, le difficoltà nella comunicazione e nell'interazione sociale, le stereotipie autistiche e la demenza."},"nl":{"name":"Desintegratiestoornis in de kindertijd","synonyms":["Dementia infantilis","Syndroom van Heller"],"definition":"Een zeldzame pervasieve ontwikkelingsstoornis, met aanvang op een leeftijd voor drie jaar, en gekenmerkt door dramatisch verlies van eerder verworven mijlpalen op vlak van gedrag en ontwikkeling na minstens twee jaar van normale ontwikkeling. Manifestaties van de ziekte zijn onder meer verlies van spraak, incontinentie, problemen met communicatie en sociale interactie, stereotiep autistisch gedrag, en dementie."},"pt":{"name":"Doença desintegrativa infantil"},"pl":{"name":"Dziecięce zaburzenie dezintegracyjne","synonyms":["Demencja dziecięca","Zespół Hellera"]},"cs":{"name":"Dětská dezintegrační porucha","synonyms":["Infantilní demence","Hellerův syndrom"]},"uk":{"name":"Дитячий дезінтеграційний розлад","synonyms":["Дитяча деменція","Синдром Геллера"],"definition":"Childhood disintergrative disorder is a rare pervasive developmental disorder with a disease onset before the age of three and characterized by a dramatic loss of behavioral and developmental functioning after atleast two years of normal development. Manifestations of the disease include loss of speech, incontinence, communication and social interaction problems, stereotypical autistic behaviors and dementia."},"zh":{"name":"儿童期精神分裂症","synonyms":["婴儿痴呆"],"definition":"儿童崩解症是一种罕见的广泛性发育障碍，其临床表现为正常发育至少2年后，原已获得的正常生活和社会功能及言语功能迅速衰退，甚至丧失，出现失语、大小便失禁、社交沟通缺陷、定型的自闭症行为和痴呆症，常发生于3岁以前。"},"tr":{"name":"Çocukluk dönemi dezintegratif bozukluğu","synonyms":["Heller sendromu","Demans infantilis"]}},"xrefs":[{"source":"ICD-10","code":"F84.3","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"6A02.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1460615954"},{"source":"MONDO","code":"0015681","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0236791","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6040","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008522","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":168778,"name":"Rare pervasive developmental disorder","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-10-17","source":"28392909[PMID]","terms":[{"hpo":"HP:0100851","label":"Abnormal emotion/affect behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007064","label":"Progressive language deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002607","label":"Bowel incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012760","label":"Reduced social responsiveness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007086","label":"Social and occupational deterioration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000020","label":"Urinary incontinence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002333","label":"Motor deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}