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Asperger syndrome 4(ASPG4)

MedGen UID:
400650
Concept ID:
C1864961
Finding
Synonyms: ASPERGER SYNDROME, SUSCEPTIBILITY TO, 4; ASPG4
 
Cytogenetic location: 3p24-p21
OMIM®: 609954

Definition

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). [from OMIM]

Additional description

From GHR
Asperger syndrome is a disorder on the autism spectrum, which is a group of conditions characterized by impaired communication and social interaction. Asperger syndrome is on the mild, or "high-functioning," end of the autism spectrum. Many affected individuals learn to compensate for their differences and live independent and successful lives. However, the behavioral challenges associated with this condition often lead to social isolation and difficulties at school, at work, and in personal relationships. People with Asperger syndrome have average or above-average intelligence. In contrast to people with other disorders on the autism spectrum, they are not delayed in their language development. However, their ability to carry on a conversation is often impaired by a tendency to take idioms or humorous statements literally and an inability to read non-verbal cues such as body language to understand what others are feeling. They may speak in a monotone voice, have unusual mannerisms, or choose unusual topics of conversation. Individuals with Asperger syndrome tend to develop an intense interest in a particular subject. This interest may be a traditional hobby or academic discipline, and many people with Asperger syndrome develop advanced abilities in fields such as music, science, mathematics, or computer programming. However, they might also focus on an unusual interest such as bus routes or a particular type of household appliance. Often they are able to remember enormous amounts of detail on their subject of interest. They may want to share this large amount of information with others and may resist diversion to other topics. People with Asperger syndrome tend to be rigid about their established routines and may strongly resist disruptions such as changes in schedule. They may also have difficulty tolerating sensory stimuli such as noise or lights. Other features of Asperger syndrome may include mild impairment of motor skills. For example, basic skills such as crawling and walking may be somewhat delayed. Affected individuals may also have coordination problems that impair their ability to engage in such activities as playing ball games or riding a bicycle. This physical clumsiness may lead to further social isolation of children with Asperger syndrome. Signs and symptoms of Asperger syndrome may become apparent by the age of 3, when most children begin to develop social skills such as learning to play with others. Some affected children may come to medical attention due to delayed motor skills. In most cases, children with Asperger syndrome are diagnosed during the elementary school years, as their social behavior continues to diverge from the typical developmental path. Difficulties with social skills generally continue into adulthood, and affected individuals are at increased risk of other behavioral or psychiatric disorders such as attention deficit-hyperactivity disorder (ADHD), depression, anxiety, and obsessive-compulsive disorder.  http://ghr.nlm.nih.gov/condition/asperger-syndrome

Recent clinical studies

Etiology

Galligan MG, Feinstein C, Sulkes SS, Bisagno JM, Stein MT
J Dev Behav Pediatr 2013 Sep;34(7):529-32. doi: 10.1097/DBP.0b013e3182a399a6. PMID: 24042084
Doi H, Fujisawa TX, Kanai C, Ohta H, Yokoi H, Iwanami A, Kato N, Shinohara K
J Autism Dev Disord 2013 Sep;43(9):2099-113. doi: 10.1007/s10803-013-1760-8. PMID: 23371506
Jung NH, Janzarik WG, Delvendahl I, Münchau A, Biscaldi M, Mainberger F, Bäumer T, Rauh R, Mall V
Dev Med Child Neurol 2013 Jan;55(1):83-9. Epub 2012 Nov 15 doi: 10.1111/dmcn.12012. [Epub ahead of print] PMID: 23157428
Beltrame JM, Viera RA, Tamanaha AC, Arcuri CF, Osborn E, Perissinoto J, Schiefer AM
J Fluency Disord 2011 Dec;36(4):280-4. Epub 2011 Jul 28 doi: 10.1016/j.jfludis.2011.07.001. [Epub ahead of print] PMID: 22133405
Mayoral M, Merchán-Naranjo J, Rapado M, Leiva M, Moreno C, Giráldez M, Arango C, Parellada M
Early Interv Psychiatry 2010 Nov;4(4):283-90. doi: 10.1111/j.1751-7893.2010.00197.x. PMID: 20977684

Diagnosis

Galligan MG, Feinstein C, Sulkes SS, Bisagno JM, Stein MT
J Dev Behav Pediatr 2013 Sep;34(7):529-32. doi: 10.1097/DBP.0b013e3182a399a6. PMID: 24042084
Kuusikko-Gauffin S, Pollock-Wurman R, Mattila ML, Jussila K, Ebeling H, Pauls D, Moilanen I
J Autism Dev Disord 2013 Mar;43(3):521-9. doi: 10.1007/s10803-012-1581-1. PMID: 22733299
Hedley D, Brewer N, Young R
Autism Res 2011 Dec;4(6):449-55. Epub 2011 Aug 24 doi: 10.1002/aur.214. [Epub ahead of print] PMID: 22162360
Beltrame JM, Viera RA, Tamanaha AC, Arcuri CF, Osborn E, Perissinoto J, Schiefer AM
J Fluency Disord 2011 Dec;36(4):280-4. Epub 2011 Jul 28 doi: 10.1016/j.jfludis.2011.07.001. [Epub ahead of print] PMID: 22133405
Mayoral M, Merchán-Naranjo J, Rapado M, Leiva M, Moreno C, Giráldez M, Arango C, Parellada M
Early Interv Psychiatry 2010 Nov;4(4):283-90. doi: 10.1111/j.1751-7893.2010.00197.x. PMID: 20977684

Therapy

Enticott PG, Fitzgibbon BM, Kennedy HA, Arnold SL, Elliot D, Peachey A, Zangen A, Fitzgerald PB
Brain Stimul 2014 Mar-Apr;7(2):206-11. Epub 2013 Oct 27 doi: 10.1016/j.brs.2013.10.004. [Epub ahead of print] PMID: 24280031
Waris P, Lindberg N, Kettunen K, Tani P
Eur Child Adolesc Psychiatry 2013 Apr;22(4):217-23. Epub 2012 Oct 13 doi: 10.1007/s00787-012-0338-x. [Epub ahead of print] PMID: 23065028
Arora M, Praharaj SK, Sarkhel S, Sinha VK
South Med J 2011 Apr;104(4):264-8. doi: 10.1097/SMJ.0b013e31820c015d. PMID: 21606694
Ritvo RA, Ritvo ER, Guthrie D, Ritvo MJ, Hufnagel DH, McMahon W, Tonge B, Mataix-Cols D, Jassi A, Attwood T, Eloff J
J Autism Dev Disord 2011 Aug;41(8):1076-89. doi: 10.1007/s10803-010-1133-5. PMID: 21086033Free PMC Article
Nieminen-von Wendt T, Salonen O, Vanhala R, Kulomäki T, von Wendt L, Autti T
Int J Circumpolar Health 2002;61 Suppl 2:22-35. PMID: 12585818

Prognosis

Galligan MG, Feinstein C, Sulkes SS, Bisagno JM, Stein MT
J Dev Behav Pediatr 2013 Sep;34(7):529-32. doi: 10.1097/DBP.0b013e3182a399a6. PMID: 24042084
Bravo Oro A, Vázquez Briseño J, Cuello García CA, Calderón Sepúlveda RF, Hernández Villalobos AM, Esmer Sánchez C
Neurologia 2012 Sep;27(7):414-20. Epub 2011 Nov 16 doi: 10.1016/j.nrl.2011.09.011. [Epub ahead of print] PMID: 22093691
Hedley D, Brewer N, Young R
Autism Res 2011 Dec;4(6):449-55. Epub 2011 Aug 24 doi: 10.1002/aur.214. [Epub ahead of print] PMID: 22162360
Raja M, Azzoni A
World J Biol Psychiatry 2009;10(4 Pt 3):944-52. doi: 10.1080/15622970701687303. PMID: 17965991
Baron-Cohen S, Scott F, Wheelwright S, Johnson M, Bisarya D, Desai A, Ahluwalia J
J Child Neurol 2006 Apr;21(4):351-6. PMID: 16900937

Clinical prediction guides

Galligan MG, Feinstein C, Sulkes SS, Bisagno JM, Stein MT
J Dev Behav Pediatr 2013 Sep;34(7):529-32. doi: 10.1097/DBP.0b013e3182a399a6. PMID: 24042084
Hedley D, Brewer N, Young R
Autism Res 2011 Dec;4(6):449-55. Epub 2011 Aug 24 doi: 10.1002/aur.214. [Epub ahead of print] PMID: 22162360
Faucz FR, Souza J, Bonalumi Filho A, Sotomaior VS, Frantz E, Antoniuk S, Rosenfeld JA, Raskin S
Am J Med Genet A 2011 Sep;155A(9):2308-10. Epub 2011 Aug 3 doi: 10.1002/ajmg.a.34196. [Epub ahead of print] PMID: 21815264
Haglund NG, Källén KB
Autism 2011 Mar;15(2):163-83. Epub 2010 Oct 5 doi: 10.1177/1362361309353614. [Epub ahead of print] PMID: 20923887
Mayoral M, Merchán-Naranjo J, Rapado M, Leiva M, Moreno C, Giráldez M, Arango C, Parellada M
Early Interv Psychiatry 2010 Nov;4(4):283-90. doi: 10.1111/j.1751-7893.2010.00197.x. PMID: 20977684

Recent systematic reviews

Retzlaff R, von Sydow K, Beher S, Haun MW, Schweitzer J
Fam Process 2013 Dec;52(4):619-52. Epub 2013 Aug 5 doi: 10.1111/famp.12041. [Epub ahead of print] PMID: 24329407
Sochocky N, Milin R
Curr Clin Pharmacol 2013 Nov;8(4):370-9. PMID: 24050741
Tsai LY
J Autism Dev Disord 2013 Dec;43(12):2914-42. doi: 10.1007/s10803-013-1839-2. PMID: 23644916
Via E, Radua J, Cardoner N, Happé F, Mataix-Cols D
Arch Gen Psychiatry 2011 Apr;68(4):409-18. doi: 10.1001/archgenpsychiatry.2011.27. PMID: 21464365
Gillberg IC, Gillberg C
J Child Psychol Psychiatry 1989 Jul;30(4):631-8. PMID: 2670981

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