Mild Intellectual Disability Associated with a Progeny of Father-Daughter Incest: Genetic and Environmental Considerations
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| Title: | Mild Intellectual Disability Associated with a Progeny of Father-Daughter Incest: Genetic and Environmental Considerations |
|---|---|
| Language: | English |
| Authors: | Ansermet, Francois, Lespinasse, James, Gimelli, Stefania |
| Source: | Journal of Child Sexual Abuse. 2010 19(3):337-344. |
| Availability: | Routledge. Available from: Taylor & Francis, Ltd. 325 Chestnut Street Suite 800, Philadelphia, PA 19106. Tel: 800-354-1420; Fax: 215-625-2940; Web site: http://www.tandf.co.uk/journals |
| Peer Reviewed: | Y |
| Physical Description: | |
| Page Count: | 8 |
| Publication Date: | 2010 |
| Document Type: | Journal Articles Reports - Research |
| Descriptors: | Sexual Abuse, Daughters, Mild Mental Retardation, Genetics, Fathers, Environmental Influences, Case Studies, Adults, Family Environment, Etiology |
| DOI: | 10.1080/10538711003788991 |
| ISSN: | 1053-8712 |
| Abstract: | We report the case of a 34-year-old female resulting from a father-daughter sexual abuse and presenting a phenotype of mild intellectual disability with minor dysmorphic features. Karyotyping showed a normal 46, XX constitution. Array-based comparative genomic hybridization (array-CGH) revealed a heterozygote 320kb 6p22.3 microdeletion in the proband, encompassing only one known gene, and therefore unlikely to be the cause of the phenotype. However, the role of other genetic factors, such as a recessive condition, could not be ruled out as a putative cause for the phenotype. On the other hand, the role played by a heavily detrimental familial situation on the development and outcome, and possibly leading or contributing to a mild intellectual disability, should be taken into account. (Contains 1 figure.) |
| Abstractor: | As Provided |
| Number of References: | 17 |
| Entry Date: | 2010 |
| Accession Number: | EJ885021 |
| Database: | ERIC |
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| FullText | Links: – Type: pdflink Url: https://content.ebscohost.com/cds/retrieve?content=AQICAHj0k_4E0hTGH8RJwT4gCJyBsGNe_WN95AvKlDbXJGqwxwE0q156kxLPpIV96QjQ9IBWAAAA4TCB3gYJKoZIhvcNAQcGoIHQMIHNAgEAMIHHBgkqhkiG9w0BBwEwHgYJYIZIAWUDBAEuMBEEDM3R74wIznhk8925BwIBEICBmSVdMgUf7AthHzBzkVlN9xYy_Y13lHgD9PL2qtAz9ln3e6asyEZIviCwQ8s6W0VVKi0sgIiUd5mq9xsiHMZw-IdKWvtO_Xa1Ftr8F8guRQZh-iXAzkevQcZN34ETM2qqbjd3q_9FZxQkdYoHhnBcRFEitVtgOS_Qiw5n_sv7eo0prTatvg6_-BHNJ0TdEuXBZS1jxeFk44DFsA== Text: Availability: 1 Value: <anid>AN0051095977;jxa01may.10;2019Apr01.14:14;v2.2.500</anid> <title id="AN0051095977-1">Mild Intellectual Disability Associated with a Progeny of Father-Daughter Incest: Genetic and Environmental Considerations. </title> <p>We report the case of a 34-year-old female resulting from a father-daughter sexual abuse and presenting a phenotype of mild intellectual disability with minor dysmorphic features. Karyotyping showed a normal 46, XX constitution. Array-based comparative genomic hybridization (array-CGH) revealed a heterozygote 320kb 6p22.3 microdeletion in the proband, encompassing only one known gene, and therefore unlikely to be the cause of the phenotype. However, the role of other genetic factors, such as a recessive condition, could not be ruled out as a putative cause for the phenotype. On the other hand, the role played by a heavily detrimental familial situation on the development and outcome, and possibly leading or contributing to a mild intellectual disability, should be taken into account.</p> <p>Keywords: consanguinity; incest; sexual abuse; genetic; microdeletion; intellectual disability</p> <p>Incest is defined as sexual relations between close blood relatives, such as father-daughter, mother-son, or brother-sister. It has psychological, social, and legal consequences. Father-daughter incest has been reported as being the most frequent type ([<reflink idref="bib5" id="ref1">5</reflink>]). It has also been noticed that being the victim of paternal incest during childhood might be a significant predictor of a borderline personality disorder and of post-traumatic stress disorder for the victims ([<reflink idref="bib15" id="ref2">15</reflink>]). Also, daughters who have been sexually abused have reported lower levels of self-esteem and more behavioral troubles than others ([<reflink idref="bib6" id="ref3">6</reflink>]).</p> <p>There are very few studies on the progeny resulting of such abuses and the consequences in terms of physical and mental health, for these have to be extrapolated from the incidence of diseases in highly consanguineous unions while taking into account the familial dislocation and stress due to the sexual abuse and its disclosure. A high-risk occurrence of intellectual disability (ID) in children resulting from incestuous unions has been suggested ([<reflink idref="bib11" id="ref4">11</reflink>]). However, when considering an ID phenotype in an incest progeny, it is difficult to differentiate between the psychologically deleterious role of the incest on the abused mother-to-be and, subsequently, on her child's development, versus the genetic consequences of such inbreeding on mental health.</p> <p>We report the case of a 34-year-old woman with mild ID and minor facial dysmorphic features. She was the result of a pregnancy by sexual abuse of her mother by her grandfather. Genetic analysis by array-comparative genomic hybridization (array-CGH) revealed a heterozygote 320kb microdeletion in the 6p22.3 region, which was not transmitted by the mother and, because of its size and gene content, most probably unlinked to the phenotype. In this situation, the differential diagnosis of the mild ID is complex. The roles of the stressful and chaotic familial situation versus the genetic factors, such as recessive factors, are discussed.</p> <hd id="AN0051095977-2">CLINICAL DESCRIPTION</hd> <p>We report the case of a 34-year-old woman, being the result of a pregnancy by sexual abuse of her mother by her grandfather. The victim (the mother of the index case) at the time of pregnancy was 17 years old. Her father had been abusing her since she was 9. The pregnancy was noticed at four months, with subsequent irregular gynecologic follow-up. At this time, the victim decided to leave the familial house because of the sexual abuses and violence from her father. She also felt indecisive and scared about revealing the sexual abuse and subsequent pregnancy to her mother. She lived in precarious conditions for the rest of her pregnancy. Neither the duration of the pregnancy nor the infant's growth parameters at birth were known. The development and general health of the child was reported as appropriate by the mother, with no specific medical needs. The patient started walking at 16 months. The developmental milestones, such as language acquisition, were reported as appropriate. The index case, as a child, remained in school until age 14 years but was described as very quiet and a slow learner. She did not present behavioral problems and had no psychological support or particular medical needs. She started to work in a protected structure at the age of 15.</p> <p>The patient's mother had in the following years two other children with a man she then married. Both children were described by the mother as healthy in terms of physical and mental health. Their schooling followed the normal system for more than 10 years, with no behavioral or intellectual problems having been reported. The family pedigree is shown in Figure 1.</p> <p>Graph: Note: The proband is indicated by an arrow.</p> <p>The patient's mother described having felt strong enough in the next years to be able to disclose the sexual abuse and pregnancy to one of her sisters. The latter helped her pursue criminal charges against her father, who subsequently went to jail. She never saw him again and did not allow her daughter to meet him.</p> <p>The patient was 155 cm and 60 kg at the time of consultation. Facial dysmorphic features were noticed, such as coarse face with large forehead, sparse hair, and teeth malposition. She was in good general health, and her medical follow-up during the previous 10 years did not report other than minor medical problems and occasional sleep disturbances. She appeared somewhat clumsy, with reduced eye contact during discussion. Her psychological evaluation revealed mild ID (IQ 70) with some disabilities in abstract thinking as well as on attention and concentration, which appeared on reading and discussion. Critical thinking and reasoning skills were slow but adequate. She tended to answer questions in single words, although capable of formulating sentences. Vocabulary was rather poor. She appeared anxious, emotionally labile, with a strong lack of self-esteem and a poor ability to project herself in the future. She minimized the circumstances of her origin and became obviously defensive when her mother described the chaotic years following her pregnancy. She seemed to consider her history to be a sort of fate, as if to say that it was useless to think about her origins, moreover, never having considered her birthday as an event to celebrate. Self-care skills seemed present but social skills were reduced, with poor and rather defensive interactions with peers as well as limited contacts with family members, except for her mother. She showed neither signs of a psychotic nor of a mood disorder. The overall psychological evaluation was remarkable, above all, for its absence of really specific clinical signs and symptoms.</p> <hd id="AN0051095977-3">RESULTS</hd> <p>The methodology used for the genetic analysis described was developed according to the standard procedures in use in our genetic analysis unit. The patient and her mother gave an informed consent for all of the genetic analysis.</p> <hd id="AN0051095977-4">Cytogenetic Analysis</hd> <p>The karyotype of the proband and of the mother was performed according to standard procedures. The analysis revealed for both a normal 46, XX constitution.</p> <hd id="AN0051095977-5">Array-CGH</hd> <p>Array-CGH analysis using the Agilent 244A oligoarray revealed, in the proband, a heterozygous interstitial deletion of chromosome 6 in the p22.3 region. The deleted segment of 0.320 Mb is located between position 22.557 Mb (Agilent probe A_16_P17476712) and position 22.897 Mb (Agilent probe A_16_P37546432). The segment encompassed only one UCSC (University of California-Santa Cruz genome bioinformatics database) gene: HDGFL1 (Homo sapiens hepatoma derived growth factor like 1, GB #AL033539). To determine the de novo or inherited status of the deletion, array-CGH was performed to the patient's mother. Array-CGH analysis on 244K in the mother did neither reveal the 6p22.3 microdeletion, nor any other genomic imbalance. No father's sample was available as he died a few months before the consultation.</p> <hd id="AN0051095977-6">Quantitative Fluorescent PCR (QF-PCR)</hd> <p>In order to determine the parental origin of the deleted allele in the proband, we performed microsatellite analysis in the region of the patient's deleted segment. One microsatellite, D6S1663, was tested in the patient, her mother's, and her grandmother's DNA samples. The microsatellite D6S276 was used as amplification control outside of the deleted region. Amplification of the marker D6S1663 in the proband and relatives was unfortunately inconclusive because the amplified alleles were uninformative (data not shown). It was therefore not possible through this analysis to conclude if the parental origin of the deleted allele was paternal, and if so, with a de novo deletion in the proband.</p> <hd id="AN0051095977-7">DISCUSSION</hd> <p>Chromosomal imbalances are recognized as a major cause of ID. They may be due to submicroscopic deletions or duplications not evidenced by conventional cytogenetic methods. Therefore, because of the facial dysmorphic features present in our patient, although minor, and ID, we performed array-CGH in addition to karyotyping.</p> <p>Within the 320 Kb region on 6p22.3 microdeleted in our patient, one known gene, hepatoma derived growth factor-like 1 (HDGFL1) is present, but its function is still elusive. This gene is a member of the hepatoma-derived growth factor family (HDGF) genes. In mice, HDGF was suggested to be involved in organ development, with proliferative, angiogenic, and neurotrophic activities ([<reflink idref="bib8" id="ref5">8</reflink>]). In humans, HDGFL1 was reported to be related to tumorigenesis and the development of cancer ([<reflink idref="bib14" id="ref6">14</reflink>]), but no functional studies have yet been performed. The link between this deletion and the observed phenotype is therefore unlikely. Furthermore, there has been no report in the literature of a patient harboring such a microdeletion of less than 500 Kb in this specific region. [<reflink idref="bib4" id="ref7">4</reflink>]) recently reviewed seven cases of interstitial deletions of the 6p22 region and reported a patient with a 7.1 Mb deletion of 6p22.3, which is associated with developmental delay, severe phenotypic features, and malformations. By looking at the different deleted regions and breakpoints, they were able to narrow down a critical region of 2.2 Mb covering 12 genes. The HDGFL1 gene was not included in this region.</p> <p>However, we have to consider other genetically related hypotheses with regard to the patient's phenotype. A large majority of studies have indicated that early mortality is increased in the progeny of consanguineous unions when compared with children born to unrelated parents ([<reflink idref="bib2" id="ref8">2</reflink>]). Furthermore, almost all studies have reported that the progeny of consanguineous unions are disadvantaged in health terms. Indeed, among other problems, ID is present in a high percentage of children resulting from first-degree consanguineous pregnancies ([<reflink idref="bib11" id="ref9">11</reflink>]). Other authors have reported, in addition to ID, physical retardation, bilateral cleft lip and/or cleft palate, and congenital blindness ([<reflink idref="bib12" id="ref10">12</reflink>]). The closer the consanguinity is, the more the progeny would be expected to present ID. Indeed, [<reflink idref="bib11" id="ref11">11</reflink>]), through their study on 38 offspring of incestuous unions, affirmed that incest is a cause of ID in a high percentage of the concerned offspring. However, most of these studies failed to consider and discuss the potential effects of other confounding factors, such as socioeconomic variables, maternal age at first birth ([<reflink idref="bib3" id="ref12">3</reflink>]), and familial environment. The risk of birth defects, or malformations, has also been described with a recorded frequency, paralleling the degree of consanguinity ([<reflink idref="bib17" id="ref13">17</reflink>]) and 10 times higher for first-cousin mating than for the general population. Besides, stillbirths were more frequent in the consanguineous versus nonconsanguineous unions. [<reflink idref="bib9" id="ref14">9</reflink>]) reported a 6-year-old male with ID, postaxial polydactyly and syndactyly, atrichia congenita totalis, severe seborrhoeic dermatitis, recurrent staphylococcal skin sepsis, and Perthes' disease of the hip, whose birth was suspected to result from an incestuous mating.</p> <p>In theory, the excess risk that an autosomal recessive disorder will be expressed in the progeny of a consanguineous union is inversely proportional to the frequency of the disease allele in the total gene pool ([<reflink idref="bib2" id="ref15">2</reflink>]). However, in the situation we report, the index case phenotype is quite unspecific and cannot orientate to a particular recessive condition to be tested.</p> <p>[<reflink idref="bib1" id="ref16">1</reflink>]) studied 29 children of brother–sister or father–daughter mating. Twenty-one were ascertained because of the history of incest and the other eight because of signs or symptoms in the child. In the first group of 21 children, 12 had abnormalities, which were severe in 9 (43%). In one of these, the disorder was autosomal recessive. All eight of the group referred with signs or symptoms had abnormalities, three from recessive disorders. The high empiric risk for severe problems in the children of such close consanguineous mating should be borne in mind in order to suggest the appropriate help for the parent who will raise these children. However, in our case, the putative recessive aspect of a condition linked to mild ID and a few facial dysmorphic features as well as the lack of familial history of such conditions could be only a hypothesis.</p> <p>The stressful familial situation linked to the incest, the sexual abuse, subsequent pregnancy in the 17-year-old abused mother-to-be and difficult socioeconomic conditions should also be considered as potentially severely detrimental factors for child development. In the case we report, the few facial dysmorphic features associated to the mild ID may have been inherited through the father. It is known that both girls and boys with sexual abuse experiences present significantly more mental health symptoms than those without this experience ([<reflink idref="bib16" id="ref17">16</reflink>]), and a wide variety of psychological after-effects have been reported ([<reflink idref="bib10" id="ref18">10</reflink>]). These include fear, anxiety, post-traumatic stress disorder, and behavior problems ([<reflink idref="bib13" id="ref19">13</reflink>]). Lower child IQ has indeed been reported as more often linked with familial chaos than to a stable familial environment ([<reflink idref="bib7" id="ref20">7</reflink>]). For the mother of our patient, the raising of her child was certainly in a chaotic environment and under deleterious conditions for her own and her child's mental health, with possible consequences on the intellectual development of the child and a possible causative link with the mild ID phenotype. Indeed, the poorness of the patient's vocabulary seemed more related to the environment than to the intellectual disability per se.</p> <p>In conclusion, while causality for the phenotype cannot be determined, this case report illustrates the complexity of defining the causes of mild ID when the familial context is heavily detrimental.</p> <hd id="AN0051095977-8">Acknowledgments</hd> <p>We thank the patient and her mother. APG is supported by Swiss National Science Foundation FNS 3100A0-116021 and the Swiss Academy for Medical Sciences.</p> <ref id="AN0051095977-9"> <title> REFERENCES </title> <blist> <bibl id="bib1" idref="ref16" type="bt">1</bibl> <bibtext> Baird, P. A. and McGillivray, B.1982. Children of incest. Journal of Pediatrics, 101(5): 854–857.</bibtext> </blist> <blist> <bibl id="bib2" idref="ref8" type="bt">2</bibl> <bibtext> Bittles, A. H.2001. Consanguinity and its relevance to clinical genetics. Clinical Genetics, 60(2): 89–98.</bibtext> </blist> <blist> <bibl id="bib3" idref="ref12" type="bt">3</bibl> <bibtext> Bittles, A. H.2003. Consanguineous marriage and childhood health. Developmental Medicine &amp; Child Neurology, 45(8): 571–576.</bibtext> </blist> <blist> <bibl id="bib4" idref="ref7" type="bt">4</bibl> <bibtext> Bremer, A., Schoumans, J., Nordenskjöld, M., Anderlid, B. M. and Giacobini, M.2009. An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities. 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Implications of childhood sexual abuse for adult borderline personality disorder and complex posttraumatic stress disorder. American Journal of Psychiatry, 160(2): 369–371.</bibtext> </blist> <blist> <bibtext> Priebe, G. and Svedin, C. G.2008. Child sexual abuse is largely hidden from the adult society. An epidemiological study of adolescents' disclosures. Child Abuse &amp; Neglect, 32(12): 1095–1108.</bibtext> </blist> <blist> <bibtext> Stoll, C., Alembik, Y., Dott, B. and Feingold, J.1994. Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births. American Journal of Medical Genetics, 49(1): 114–117.</bibtext> </blist> </ref> <aug> <p>By François Ansermet; James Lespinasse; Stefania Gimelli; Frédérique Béna and Ariane Paoloni-Giacobino</p> <p>Reported by Author; Author; Author; Author; Author</p> </aug> <nolink nlid="nl1" bibid="bib15" firstref="ref2"></nolink> <nolink nlid="nl2" bibid="bib11" firstref="ref4"></nolink> <nolink nlid="nl3" bibid="bib14" firstref="ref6"></nolink> <nolink nlid="nl4" bibid="bib12" firstref="ref10"></nolink> <nolink nlid="nl5" bibid="bib17" firstref="ref13"></nolink> <nolink nlid="nl6" bibid="bib16" firstref="ref17"></nolink> <nolink nlid="nl7" bibid="bib10" firstref="ref18"></nolink> <nolink nlid="nl8" bibid="bib13" firstref="ref19"></nolink> |
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| Items | – Name: Title Label: Title Group: Ti Data: Mild Intellectual Disability Associated with a Progeny of Father-Daughter Incest: Genetic and Environmental Considerations – Name: Language Label: Language Group: Lang Data: English – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Ansermet%2C+Francois%22">Ansermet, Francois</searchLink><br /><searchLink fieldCode="AR" term="%22Lespinasse%2C+James%22">Lespinasse, James</searchLink><br /><searchLink fieldCode="AR" term="%22Gimelli%2C+Stefania%22">Gimelli, Stefania</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="SO" term="%22Journal+of+Child+Sexual+Abuse%22"><i>Journal of Child Sexual Abuse</i></searchLink>. 2010 19(3):337-344. – Name: Avail Label: Availability Group: Avail Data: Routledge. Available from: Taylor & Francis, Ltd. 325 Chestnut Street Suite 800, Philadelphia, PA 19106. Tel: 800-354-1420; Fax: 215-625-2940; Web site: http://www.tandf.co.uk/journals – Name: PeerReviewed Label: Peer Reviewed Group: SrcInfo Data: Y – Name: PhysDesc Label: Physical Description Group: PhysDesc Data: PDF – Name: Pages Label: Page Count Group: Src Data: 8 – Name: DatePubCY Label: Publication Date Group: Date Data: 2010 – Name: TypeDocument Label: Document Type Group: TypDoc Data: Journal Articles<br />Reports - Research – Name: Subject Label: Descriptors Group: Su Data: <searchLink fieldCode="DE" term="%22Sexual+Abuse%22">Sexual Abuse</searchLink><br /><searchLink fieldCode="DE" term="%22Daughters%22">Daughters</searchLink><br /><searchLink fieldCode="DE" term="%22Mild+Mental+Retardation%22">Mild Mental Retardation</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics%22">Genetics</searchLink><br /><searchLink fieldCode="DE" term="%22Fathers%22">Fathers</searchLink><br /><searchLink fieldCode="DE" term="%22Environmental+Influences%22">Environmental Influences</searchLink><br /><searchLink fieldCode="DE" term="%22Case+Studies%22">Case Studies</searchLink><br /><searchLink fieldCode="DE" term="%22Adults%22">Adults</searchLink><br /><searchLink fieldCode="DE" term="%22Family+Environment%22">Family Environment</searchLink><br /><searchLink fieldCode="DE" term="%22Etiology%22">Etiology</searchLink> – Name: DOI Label: DOI Group: ID Data: 10.1080/10538711003788991 – Name: ISSN Label: ISSN Group: ISSN Data: 1053-8712 – Name: Abstract Label: Abstract Group: Ab Data: We report the case of a 34-year-old female resulting from a father-daughter sexual abuse and presenting a phenotype of mild intellectual disability with minor dysmorphic features. Karyotyping showed a normal 46, XX constitution. Array-based comparative genomic hybridization (array-CGH) revealed a heterozygote 320kb 6p22.3 microdeletion in the proband, encompassing only one known gene, and therefore unlikely to be the cause of the phenotype. However, the role of other genetic factors, such as a recessive condition, could not be ruled out as a putative cause for the phenotype. On the other hand, the role played by a heavily detrimental familial situation on the development and outcome, and possibly leading or contributing to a mild intellectual disability, should be taken into account. (Contains 1 figure.) – Name: AbstractInfo Label: Abstractor Group: Ab Data: As Provided – Name: Ref Label: Number of References Group: RefInfo Data: 17 – Name: DateEntry Label: Entry Date Group: Date Data: 2010 – Name: AN Label: Accession Number Group: ID Data: EJ885021 |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1080/10538711003788991 Languages: – Text: English PhysicalDescription: Pagination: PageCount: 8 StartPage: 337 Subjects: – SubjectFull: Sexual Abuse Type: general – SubjectFull: Daughters Type: general – SubjectFull: Mild Mental Retardation Type: general – SubjectFull: Genetics Type: general – SubjectFull: Fathers Type: general – SubjectFull: Environmental Influences Type: general – SubjectFull: Case Studies Type: general – SubjectFull: Adults Type: general – SubjectFull: Family Environment Type: general – SubjectFull: Etiology Type: general Titles: – TitleFull: Mild Intellectual Disability Associated with a Progeny of Father-Daughter Incest: Genetic and Environmental Considerations Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ansermet, Francois – PersonEntity: Name: NameFull: Lespinasse, James – PersonEntity: Name: NameFull: Gimelli, Stefania IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Type: published Y: 2010 Identifiers: – Type: issn-print Value: 1053-8712 Numbering: – Type: volume Value: 19 – Type: issue Value: 3 Titles: – TitleFull: Journal of Child Sexual Abuse Type: main |
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