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Lack of spontaneous play

MedGen UID:
373380
Concept ID:
C1837650
Finding
HPO: HP:0000721

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLack of spontaneous play

Conditions with this feature

Autism
MedGen UID:
13966
Concept ID:
C0004352
Mental or Behavioral Dysfunction
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.
Asperger syndrome, susceptibility to, 1
MedGen UID:
325218
Concept ID:
C1837646
Disease or Syndrome
Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder. Genetic Heterogeneity of Susceptibility to Asperger Syndrome ASPG1 maps to chromosome 3q. Other autosomal loci include ASPG2 (608631) on chromosome 17p, ASPG3 (608781) on 1q21-q22, and ASPG4 (609954) on 3p24-p21.
Asperger syndrome, susceptibility to, 2
MedGen UID:
332517
Concept ID:
C1837697
Disease or Syndrome
Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder. For a discussion of genetic heterogeneity of Asperger syndrome, see ASPG1 (608638).
Autism, susceptibility to, 3
MedGen UID:
334211
Concept ID:
C1842632
Finding
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Impaired intellectual development coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which impaired intellectual development is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850. See also chromosome 13q14 deletion syndrome (613884), in which retinoblastoma and impaired intellectual development are features.
Autism, susceptibility to, X-linked 3
MedGen UID:
335161
Concept ID:
C1845336
Finding
The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.
Autism, susceptibility to, X-linked 2
MedGen UID:
336964
Concept ID:
C1845539
Finding
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Impaired intellectual development coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which intellectual disability is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850.
Autism, susceptibility to, X-linked 1
MedGen UID:
335205
Concept ID:
C1845540
Finding
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850.
Autism, susceptibility to, 8
MedGen UID:
409897
Concept ID:
C1969710
Finding
Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850.
15q11q13 microduplication syndrome
MedGen UID:
390767
Concept ID:
C2675336
Disease or Syndrome
Maternal 15q duplication syndrome (maternal dup15q) is characterized by hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms. Rarely, maternal dup15q may also be associated with psychosis or sudden unexplained death. Those with a maternal isodicentric 15q11.2-q13.1 supernumerary chromosome are typically more severely affected than those with an interstitial duplication.

Professional guidelines

PubMed

Rodrigues VADS, Abreu YR, Santos CAG, Gatti AF, Murer GM, Gontijo BDR, Alves JS, Cunha TM, Azevedo VMGO, Mendonça TMS, Paro HBMS
Birth 2022 Sep;49(3):464-473. Epub 2022 Feb 12 doi: 10.1111/birt.12617. PMID: 35150169
De Sanctis V, Soliman AT, Elsedfy H, Yassin M, Canatan D, Kilinc Y, Sobti P, Skordis N, Karimi M, Raiola G, Galati MC, Bedair E, Fiscina B, El Kholy M; I-CET (International Network on Growth Disorders and Endocrine Complications in Thalassemia)
Pediatr Endocrinol Rev 2013 Dec;11(2):167-80. PMID: 24575552
Bellinger MF
Urol Clin North Am 1985 Feb;12(1):23-9. PMID: 3883622

Recent clinical studies

Etiology

Srivastava P, Bamba C, Chopra S, Mandal K
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Sakowicz-Burkiewicz M, Pawełczyk T, Zyśk M
Int J Mol Sci 2021 Oct 22;22(21) doi: 10.3390/ijms222111421. PMID: 34768850Free PMC Article
Brignell A, Chenausky KV, Song H, Zhu J, Suo C, Morgan AT
Cochrane Database Syst Rev 2018 Nov 5;11(11):CD012324. doi: 10.1002/14651858.CD012324.pub2. PMID: 30395694Free PMC Article
Chen I, Opiyo N, Tavender E, Mortazhejri S, Rader T, Petkovic J, Yogasingam S, Taljaard M, Agarwal S, Laopaiboon M, Wasiak J, Khunpradit S, Lumbiganon P, Gruen RL, Betran AP
Cochrane Database Syst Rev 2018 Sep 28;9(9):CD005528. doi: 10.1002/14651858.CD005528.pub3. PMID: 30264405Free PMC Article

Diagnosis

Nie J, Wei Q, Bai T, Zhang T, Lv H, Zhang L, Ji G, Yu F, Tian Y, Wang K
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Meek AT, Kronenberg NM, Morton A, Liehm P, Murawski J, Dalaka E, Booth JH, Powis SJ, Gather MC
Nat Commun 2021 Jun 11;12(1):3552. doi: 10.1038/s41467-021-23734-4. PMID: 34117241Free PMC Article
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Therapy

Lieu N, Ngo P, Chennapragada SM, Fitzgerald DA, Karpelowsky J, Pandit C, Selvadurai H, Robinson PD
Paediatr Respir Rev 2022 Mar;41:73-79. Epub 2021 Aug 10 doi: 10.1016/j.prrv.2021.08.001. PMID: 34511373
Han X, Liu X, Zhong F, Wang Y, Guan H, Zhang Q
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Brignell A, Chenausky KV, Song H, Zhu J, Suo C, Morgan AT
Cochrane Database Syst Rev 2018 Nov 5;11(11):CD012324. doi: 10.1002/14651858.CD012324.pub2. PMID: 30395694Free PMC Article
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Cochrane Database Syst Rev 2018 Sep 28;9(9):CD005528. doi: 10.1002/14651858.CD005528.pub3. PMID: 30264405Free PMC Article
Bloomfield FH
Annu Rev Nutr 2011 Aug 21;31:235-61. doi: 10.1146/annurev-nutr-072610-145141. PMID: 21548777

Prognosis

Srivastava P, Bamba C, Chopra S, Mandal K
Biomark Med 2022 Feb;16(2):101-115. Epub 2022 Jan 14 doi: 10.2217/bmm-2021-0568. PMID: 35026953
O'Donnell C, Di Simplicio M, Burnett Heyes S
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Lucroy MD, Suckow MA
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Eriksson T, Björkman S, Höglund P
Eur J Clin Pharmacol 2001 Aug;57(5):365-76. doi: 10.1007/s002280100320. PMID: 11599654
Bellinger MF
Urol Clin North Am 1985 Feb;12(1):23-9. PMID: 3883622

Clinical prediction guides

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O'Donnell C, Di Simplicio M, Burnett Heyes S
J Affect Disord 2020 Dec 1;277:742-746. Epub 2020 Aug 7 doi: 10.1016/j.jad.2020.08.003. PMID: 32919295
Lucroy MD, Suckow MA
Expert Opin Drug Discov 2020 Jun;15(6):731-738. Epub 2020 Mar 16 doi: 10.1080/17460441.2020.1739644. PMID: 32176534
Bloomfield FH
Annu Rev Nutr 2011 Aug 21;31:235-61. doi: 10.1146/annurev-nutr-072610-145141. PMID: 21548777

Recent systematic reviews

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Biomark Med 2022 Feb;16(2):101-115. Epub 2022 Jan 14 doi: 10.2217/bmm-2021-0568. PMID: 35026953
Achón M, Úbeda N, García-González Á, Partearroyo T, Varela-Moreiras G
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Brignell A, Chenausky KV, Song H, Zhu J, Suo C, Morgan AT
Cochrane Database Syst Rev 2018 Nov 5;11(11):CD012324. doi: 10.1002/14651858.CD012324.pub2. PMID: 30395694Free PMC Article
Chen I, Opiyo N, Tavender E, Mortazhejri S, Rader T, Petkovic J, Yogasingam S, Taljaard M, Agarwal S, Laopaiboon M, Wasiak J, Khunpradit S, Lumbiganon P, Gruen RL, Betran AP
Cochrane Database Syst Rev 2018 Sep 28;9(9):CD005528. doi: 10.1002/14651858.CD005528.pub3. PMID: 30264405Free PMC Article
Nanda K, Peloggia A, Grimes D, Lopez L, Nanda G
Cochrane Database Syst Rev 2006 Apr 19;(2):CD003518. doi: 10.1002/14651858.CD003518.pub2. PMID: 16625583

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