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Fenotipos marginales en el autismo: una revisión de los estudios clínicos, bioquímicos y cognitivos

Published online by Cambridge University Press:  12 May 2020

V. Goussé ,
M.H. Plumet ,
N. Chabane ,
M.C. Mouren-Siméoni ,
N. Ferrandian  and
M. Leboyer
V. Goussé
Affiliation:
Consulta de autismo, Servicio de Psicopatología del Niño y del Adolescente, Hospital Robert Debré, Asistencia Pública-Hospitales de Paris, 75019París, Francia INSERM U 513, Hospital Albert Chenevier y Henri Mondor
M.H. Plumet
Affiliation:
Consulta de autismo, Servicio de Psicopatología del Niño y del Adolescente, Hospital Robert Debré, Asistencia Pública-Hospitales de Paris, 75019París, Francia
N. Chabane
Affiliation:
Consulta de autismo, Servicio de Psicopatología del Niño y del Adolescente, Hospital Robert Debré, Asistencia Pública-Hospitales de Paris, 75019París, Francia INSERM U 513, Hospital Albert Chenevier y Henri Mondor
M.C. Mouren-Siméoni
Affiliation:
Consulta de autismo, Servicio de Psicopatología del Niño y del Adolescente, Hospital Robert Debré, Asistencia Pública-Hospitales de Paris, 75019París, Francia
N. Ferrandian
Affiliation:
Asistencia Pública-Hospitales de Paris, 40, rue de Mesly, 94000Créteil, Francia
M. Leboyer
Affiliation:
Consulta de autismo, Servicio de Psicopatología del Niño y del Adolescente, Hospital Robert Debré, Asistencia Pública-Hospitales de Paris, 75019París, Francia INSERM U 513, Hospital Albert Chenevier y Henri Mondor Asistencia Pública-Hospitales de Paris, 40, rue de Mesly, 94000Créteil, Francia
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Resumen

El progreso en la identificación de los factores de vulnerabilidad genética en el autismo requiere la identificación correcta del fenotipo o fenotipos heredados. Esto se puede lograr no sólo por la descripción precisa del sujeto afectado, sino también por la identificación de los rasgos de vulnerabilidad en familiares no afectados de los probandos autistas. Esta revisión se centrará en esta última estrategia y principalmente en los rasgos clínicos, bioquímicos y cognitivos.

Keywords

autismogenética psiquiátricafenotiposevaluaciones cognitivasclínicas y bioquimicas
Type
Revision
Information
European Psychiatry (Ed. Española) , Volume 9 , Issue 7 , October 2002 , pp. 421 - 429
Copyright
Copyright © European Psychiatric Association 2002

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Footnotes

GousseV, PlumetM-H, ChabaneN, Mouren-SimeoniM-C, FerradianN, LeboyerM. Fenotipos marginales en el autismo: una revisión de los estudios clínicos, bioquímicos y cognitivos. Eur Psychiatry2002; 17: 120–8.

References

Bibliografía

Abramson, RK, Wright, HH, Carpenter, R, Brennan, W, Lumpuy, O, Cole, E, et al.Elevated bloud serotonin in autistic probands and their first-degree relatives. J Autism Dev Disord 1989; 19: 397–407.CrossRefGoogle Scholar
Abramson, RK, Wright, HH, Cuccaro, ML, Lawrence, LG, Babb, S, Pencarinha, D, et al.Biological liability in families with autism. J Am Acad Child Adolesc Psychiatry 1992; 31: 370–1.CrossRefGoogle ScholarPubMed
Anderson, GM, Freedman, CX, Cohen, DJ, Volkmar, FR, Hoder, EL, McPhedran, P, et al.Whole blood serotonin in autistic and normal subjects. J Child Psychol Psychiatry 1987; 28: 885–900.CrossRefGoogle ScholarPubMed
Asperger, H. Die Autistischen Psychopathen im Kindesalter. Archiv fuer Psychiatrie und Nervenkrankheiten 1944; 117: 76–136 (in German).CrossRefGoogle Scholar
August, GJ, Stewart, MA, Tsai, L. The incidence of cognitive disabilities in the siblings of autistic children. Br J Psychiatry 1981; 138: 416–22.CrossRefGoogle ScholarPubMed
Baird, TD, August, GJ. Familial heterogeneity in infantile autism. J Autism Dev Disorders 1985; 15: 315–21.CrossRefGoogle ScholarPubMed
Bailey, A, Le Couteur, A, Gottesman, I, Bolton, P, Simonoff, E, Yuzda, E, et al.Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol Med 1995; 25: 63–77.CrossRefGoogle ScholarPubMed
Bailey, A, Palferman, S, Heavey, L, Le Couteur, A. Autism: The phenotype in relatives. J Autism Dev Disorders 1998; 28: 369–92.CrossRefGoogle ScholarPubMed
Baron-Cohen, S, Leslie, AM, Frith, U. Does the autistic children have a theory of mind?. Cognition 1985; 21: 37–46.CrossRefGoogle ScholarPubMed
Baron-Cohen, S, Hammer, J. Parents of children with Asperger Syndrome: What is the cognitive phenotype?. J Cognitive Neurosci 1997; 9: 548–54.CrossRefGoogle ScholarPubMed
Bartak, L, Rutter, M, Cox, A. A comparative study of infantile autism and specific developmental receptive language disorder. The children. Br J Psychiatry 1975; 126: 127–45.CrossRefGoogle Scholar
Benetto, L, Pennington, BF, Rogers, SJ. Intact and impaired memory functions in autism. Child Dev 1996; 6: 1816–35.CrossRefGoogle Scholar
Bettelheim, B. The Empty Fortress: Infantile Autism and the Birth of the Self. New York: Free Press; 1967.Google Scholar
Bishop, D. The underlying nature of specific language impairment. J Child Psychol Psychiatry 1992; 33: 3–66.CrossRefGoogle ScholarPubMed
Bolton, P, MacDonald, H, Pickles, A, Rios, P, Goode, S, Crowson, M, et al.A case-control family study of autism. J Child Psychol Psychiatry 1994; 35: 877–90.CrossRefGoogle ScholarPubMed
Bolton, P, Pickles, A, Murphy, M, Rutter, M. Autism, affective and other psychiatric disorders: patterns of familial aggregation. Psychol Med 1998; 28: 385–95.CrossRefGoogle ScholarPubMed
Boutin, P, Maziade, M, Mérette, C, Mondor, M, Bédard, C, et al.Family history of cognitive disabilities in first-degree relatives of autistic and mentally retarded children. J Autism Dev Disorders 1997; 27: 165–76.CrossRefGoogle ScholarPubMed
Briskman, J, Happé, F, Frith, U. Exploring the cognitive phenotype of autism: Weak ‘central coherence’ in parents and siblings of children with autism. II: Real-life skills and preferences. J Child Psychol Psychiatry 2001; 42: 309–16.CrossRefGoogle Scholar
Carey, G, Williamson, J. Linkage analysis of quantitative traits: increased power by using selected samples. Am J Hum Genet 1991; 49: 786–96.Google ScholarPubMed
Cook, EH, Charak, DA, Arida, J, Spohn, JA, Roizen, NJM, et al.Depressive and obsessive compulsive symptoms in hyperserotonemic parents of children with autistic disorders. Psychiatry Res 1994; 52: 25–33-CrossRefGoogle Scholar
Cook, EH, Arora, RC, Anderson, GM, Berry, Kravis EM, Yan, SY, Yeoh, HC, et al.Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder. Life Sci 1993; 52: 2005–15.CrossRefGoogle ScholarPubMed
DeLong, RG, Dwyer, JT. Correlation of family history with specific autistic subgroups: Asperger's Syndrome and bipolar affective disease. J Autism Dev Disorders 1988; 18: 593–600.CrossRefGoogle ScholarPubMed
DeLong, RG, Nohria, C. Psychiatric family history and neurological disease in autistic spectrum disorders. Dev Med Child Neurol 1994; 36: 441–8.Google ScholarPubMed
Eisenberg, L, Kanner, L. Early infantile autism, 1943-1955. Am J Orthopsychiatry 1956; 26: 556–66.CrossRefGoogle Scholar
Folstein, SE, Rutter, M. Infantile autism: A genetic study of 21 twin pairs. J Child Psychol Psychiatry 1977; 18: 297–321.Google ScholarPubMed
Fombonne, E, Bolton, P, Prior, J, Jordán, H, Rutter, M. A family study of autism: Cognitive patterns and levels in parents and siblings. J Child Psychol Psychiatry 1997; 38: 667–84.CrossRefGoogle ScholarPubMed
Gillberg, C. Outcome in autism and autistic-like coriditions. J Child Adolesc Psychiatry 1991; 30: 375–82.CrossRefGoogle Scholar
Gillberg, C, Gillberg, IC, Steffenburg, S. Siblings and parents of children with autism: a controlled population-based study. Dev Med Child Neurol 1992; 34: 389–98.CrossRefGoogle ScholarPubMed
Happé, F, Briksman, J, Frith, U. Exploring the cognitive phenotype of autism: Weak ‘central coherence1 in parents and siblings of children with autism. I: Experimental tests. J Child Psychol Psychiatry 2001; 42: 299–307.CrossRefGoogle ScholarPubMed
Hughes, C, Leboyer, M, Bouvard, M. Executive function in parents of children with autism. Psychol Med 1997; 27: 209–20.CrossRefGoogle ScholarPubMed
Hughes, C, Leboyer, M, Plumet, MH. Toward a cognitive phenotype of autism: Siblings show strong span and weak executive function. J Child Psychol Psychiatry 1999; 40: 705–18.Google Scholar
Kanner, L. Autistic disturbances of affective contact. Nervous Children 1943; 2: 217–50.Google Scholar
Kuperman, S, Beeghly, JH, Burns, TL, Tsai, LY. Serotonin relationships of autistic probands and their fírst-degree relatives. J Am Acad Child Adolesc Psychiatry 1985; 24: 186–90.CrossRefGoogle ScholarPubMed
Landa, R, Piven, J, Wzorek, M, Gayle, J, Chase, G, Folstein, S. Social language use in parents of autistic individuáis. Psychol Med 1992; 22: 245–54.CrossRefGoogle Scholar
Launey, JM, Ferrari, P, Haimart, M, Bursztein, , Tabuteau, F, Braconnier, A, et al.Serotonin metabolism and other biochemical parameters in infantile autism. A control study of 22 autistic children. Neuropsychobiology 1992; 20: 1–11.CrossRefGoogle Scholar
Leboyer, M, Philippe, A, Bóuvard, M, Guilloud-Bataille, M, Bondoux, D, Tabuteau, F, et al.Whole blood Serotonin and Plasma Beta Endorphin in autistic probands and their firstdegree relatives. Biol Psychiatry 1999; 45: 158–63.CrossRefGoogle Scholar
Leboyer, M, Bouvará, C, Recasens, C, Philippe, A, Guillaoud-, Bataille D, Bondoux, F, et al.Dissociation between plasma N- and C-terminal Beta- endorphin immunoreactivities in infantile autism. Am J Psychiatry 1994; 151: 1797–801.Google Scholar
Leboyer, M, Plumet, MH, Goldblum, MC, Perez-Diaz, F, Marchaland, C. Verbal versus visuo-spatial abilities in relatives of autistic females. Dev Neuropsychol 1995; 11:139–55.CrossRefGoogle Scholar
LeCouteur, A, Bailey, A, Goode, S, Pickles, A, Robertson, S, et al.A broader phenotype in autism: the clinical spectrum in twins. J Child Psychol Psychiatry 1996; 37: 785–801.CrossRefGoogle Scholar
Leventhal, BL, Cook, EH Jr, Morford, M, Ravitz, A, Freedman, DX. Relationships of whole blood serotonin and plasma norepinephrine within families. J Autism Dev Disorders 1990; 20: 499–511.CrossRefGoogle ScholarPubMed
Macdonald, H, Rutter, M, Rios, P, Bolton, B, Cognitive and social abnormalities in first-degree relátives of autistic and Down's syndrome probands. Paper presented at the meeting of the World Congress on Psychiatric Genetics. Cambridge, Churchill College: Churchill College; 1989.Google Scholar
Mac Guffin, P. The new genetics and childhood psychiatric disorder. J Child Psychol Psychiatry 1987; 28: 215–22.CrossRefGoogle Scholar
Minton, J, Campbell, M, Green, W, Jennings, S, Samit, CCognitive assessment of siblings of autistic children. J Am Acad Child Adolesc Psychiatry 1982; 213: 256–61.CrossRefGoogle Scholar
Ozonoff, S. Executive functions in autism. In: Schopler, E, Mesibov, GB, editors. Learning and cognition in autism. New York: Plenum Press; 1995. p. 199-219.Google Scholar
Ozonoff, S, Rogers, S, Farham, J, Pennington, B, Can standard measures identify subclinical markers of autism? J Autism Dev Disorders 1993; 23: 429–44.CrossRefGoogle ScholarPubMed
Pauls, DL. Behavioural disorders: lessons in linkage. Nat Gen 1993; 3: 4–5.CrossRefGoogle ScholarPubMed
Pickles, A, Bolton, P, Macdonald, H, Bailey, A, Le Couteur, A, Sim, CH, Rutter, MLatent class analysis of recurrence risks for complex phenotypes with selection and measurement error: A twin and family history study of autism. Am J Hum Gen 1995; 57: 717–26.Google ScholarPubMed
Piven, J, Gayle, J, Chase, G, Fink, B, Landa, R, Wzorek, MM, et al.A family history study of neuropsychiatric disorders in the adult siblings of autistic individuáis. J Am Acad Child Adolesc Psychiatry 1990; 29: 177–83.CrossRefGoogle Scholar
Piven, J, Chase, GA, Landa, R, Wzorek, M, Gayle, J, Cloud, D, et al.Psychiatric disorders in parents of autistic individuáis. J Am Acad Child Adolesc Psychiatry 1991; 30: 471–8.CrossRefGoogle Scholar
Piven, J, Wzorek, M, Landa, R, Lainhart, J, Bolton, P, Chase, GA. Personality characteristics of the parents of autistic individuáis. Psychol Med 1994; 24: 783–95.CrossRefGoogle Scholar
Piven, J, Amdt, S, Bailey, J, Havercamp, S, Andreasen, N, Palmer, P. An MRI study of brain size in autism. Am J Psychiatry 1995; 152: 1145–9.Google ScholarPubMed
Piven, J, Palmer, P. Cognitive déficits in parents from múltiple incidence autism families. J Child Psychol Psychiatry 1997; 38: 1011–22.CrossRefGoogle ScholarPubMed
Piven, J, Palmer, P, Landa, R, Santangelo, SS, Jacobi, D, Childless, D. Personality and language characteristics in parents from múltiple incidence autism families. Am J Med Gen 1997; 74: 398–411.3.0.CO;2-D>CrossRefGoogle ScholarPubMed
Piven, J, Palmer, P. Psychiatric disorder and the broad autism phenotype. Evidence from a family study of multiple- incidence autism families. Am J Psychiatry 1997; 156: 557–63.Google Scholar
Plumet, MH, Goldblum, MC, Leboyer, M. Verbal skills in relatives of autistic females. Cortex 1995; 31: 723–33.CrossRefGoogle ScholarPubMed
Rutter, M, Macdonald, H, Le Couteur, A, Harrington, R, Bolton, P, Bailey, A. Genetic factors in child psychiatric disorders- II. Empirical findings. J Child Psychol Psychiatry 1990; 3: 39–83.CrossRefGoogle Scholar
Silliman, E, Campbell, M, Mitchell, RB. Genetic influences in autism and assessment of metalinguistic performance in siblings of autistic subjects. In: Dawson, G, editor. Autism. New York: Guilford Press; 1989.Google Scholar
Smalley, SL, Asamow, RF, Spence, MA. Autism and genetics: A decade of research. Arch Gen Psychiatry 1988; 45: 953–61.CrossRefGoogle ScholarPubMed
Smalley, SL, Asamow, RF. Brief report: Cognitive subclinical markers in autism. J Child Psychol Psychiatry 1990; 29: 143–54.Google Scholar
Smalley, SL, McCracken, J, Tanguay, P. Autism, affective disorders and social phobia. Am J Med Gen (Neuropsychiatr Genet) 1995; 50: 19–26.CrossRefGoogle Scholar
Starr, E, Berument, SK, Pickles, A, Tomlins, M, Bailey, S, Papanickolaou, K, et al.A family genetic study of autism associated with profound mental retardation. J Autism Dev Disord 2001; 31: 89–96.CrossRefGoogle ScholarPubMed
Steffenburg, S, Gillberg, C, Hellgren, L, Anderson, L, Gillberg, I, Jakobssen, G, et al.A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 1989; 30: 405–16.CrossRefGoogle ScholarPubMed
Szatmari, P, Jones, M, Tuff, L, Bartolucci, G, Fisman, S, Mahoney, W. Lack of cognitive impairment in first-degree relatives of children with Pervasive Developmental Disorders. J Am Acad Child Adolesc Psychiatry 1993; 32: 1264–73.CrossRefGoogle ScholarPubMed
Szatmari, P, Jones, M, Zwaigenbaun, L, MacLean, JE. Genetics of Autism: Overview and new directions. J Autism Dev Disorders 1998; 28: 351–69.CrossRefGoogle ScholarPubMed
Rumsey, JM, Hamburger, SD. Neuropsychological findings in high-functioning men with infantile autism residual State. J Clin Exp Neuropsychol 1988; 10: 201–21.CrossRefGoogle ScholarPubMed
Wolff, S, Narayan, S, Moyes, B. Personality characteristics of parents of autistic children. J Child Psychol Psychiatry 1988; 29: 143–54.CrossRefGoogle ScholarPubMed