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1.
J Child Sex Abus ; 33(1): 102-125, 2024.
Article in English | MEDLINE | ID: mdl-37994404

ABSTRACT

This critique alerts practicing professionals of the multiple misleading statements in the recently published article entitled, "A compendium of risk and needs tools for assessing male youths at-risk to and/or who have engaged in sexually abusive behaviors." This critique corrects the erroneous information contained in Jung and Thomas' article, providing current accurate information related to the important distinct differences of available standardized risk assessment tools used in forensic settings with youths who have engaged in sexually abusive behaviors. Erroneous statements by other researchers and authors in the field are also discussed. Forensic cases are distinctively different from others seen in clinical settings, requiring specific knowledge and skill set, a notable distinction not often mentioned in research literature.


Subject(s)
Child Abuse, Sexual , Child , Humans , Male , Adolescent , Risk Assessment , Aggression , Records , Sexual Behavior
2.
J Child Sex Abus ; 32(3): 379-396, 2023 Apr.
Article in English | MEDLINE | ID: mdl-36935612

ABSTRACT

This article contends that youth who engage in persistent coarse sexual improprieties and/or, sexually abusive behaviors are too often viewed primarily through a criminological lens, regardless of their age, gender, judicial status, and/or experiences of past trauma/victimization. Such a posture likely falsifies the clinical perception of the individual referred for "treatment." Assessment and interventions for these youth must be holistic and idiosyncratic, considering numerous multiplex developmental variables (i.e., overall human sexual development, gender identity, sexual identity, sexual orientation, erotic development, intimacy deficits, adverse childhood experiences/trauma), as well as sociological and anthropological fundamentals. The lens for assessing and intervening with youth must also include in its focus the constantly changing Zeitgeist, that is, the spirit or the mood of the times. The proposed lens is applicable to all youth, adjudicated and non-adjudicated. Specific considerations are discussed related to those youth with a history of significant child maltreatment who later engage in persistent coarse sexual improprieties and/or sexually abusive behaviors.


Subject(s)
Child Abuse, Sexual , Crime Victims , Child , Adolescent , Humans , Male , Female , Gender Identity , Sexual Behavior , Aggression
3.
J Child Sex Abus ; 32(2): 133-152, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36797815

ABSTRACT

This article renews the call by Chaffin and Bonner in 1998 to cease treating youth who engage in sexually abusive behaviors like adult male convicted sex offenders. The author urges that professionals cease imposing an adult-centered convicted sex offender paradigm in assessment and treatment. A new paradigm is advocated that considers sexual developmental and gender issues, along with judicial status in all areas of intervention (i.e., clinical and risk assessment, treatment/service planning, and possible treatment [when needed]). The paradigm is grounded on the Family Lovemap model, a conceptual framework for assessing the youth's bio-physio-psycho-social-sexual and erotic development. Discussed is the evidence-based, developmentally and gender sensitive risk-level tool, MEGA♪ as a viable option for assessing risk for persistent coarse sexual improprieties and sexually abusive behaviors in youth ages 4-19 (adjudicated and non-adjudicated). Selected significant empirical findings are presented from 3,901 youths who were participants in samples of the MEGA♪ validation studies.


Subject(s)
Child Abuse, Sexual , Criminals , Sex Offenses , Child , Humans , Male , Adolescent , Child, Preschool , Young Adult , Adult , Sexual Behavior , Risk Assessment , Aggression
4.
J Child Sex Abus ; 30(7): 765-784, 2021 Oct.
Article in English | MEDLINE | ID: mdl-33899696

ABSTRACT

Evaluated is a recently developed tool, the Youth Needs and Progress Scale (YNPS). Reported is the surprisingly palpable lack of adherence to scientific standards. A demonstrable absence of attention and accordance to scientific methods related to research and developing psychometrics is evident, that is, taking a colander approach when constructing the tool. The rudimentary steps of this project were described by Kang et al. (2019) and subsequently critiqued by this author. Significant concerns previously delineated were not addressed, but rather crystalized in a substantial U.S. federally tax funded grant for a substandard tool. These are described in this article (i.e., lack of adequate literature review, citing selective research findings, referencing face validity tools, problematic research design). The key concern is the reliance on risk recidivism tools (J-SOAP-II and ERASOR), partially based on adult research and empirically shown to have inconsistently performed in risk assessment studies.


Subject(s)
Child Abuse, Sexual , Juvenile Delinquency , Sex Offenses , Adolescent , Adult , Child , Humans , Psychometrics , Reproducibility of Results , Risk Assessment
5.
J Child Adolesc Trauma ; 13(2): 141-151, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32549926

ABSTRACT

Empirical findings are reported on an age group of sexually abusive youth (4-12 years) not commonly studied. Findings are from major studies employing the ecologically framed MEGA ♪ risk assessment tool: MEGA ♪ Combined Samples Studies (N = 3901 [1979-2017] (Miccio-Fonseca Journal of Child Sexual Abuse: Special Issue on Risk Assessment of Sexually Abusive Youth, 2018a, Journal of Child and Adolescent Trauma, 2018b) and MEGA ♪ Combined Cross Validation Studies (N = 2717). Samples consisted of male, female, and transgender-female, ages 4-19 with coarse sexual improprieties and/or sexually abusive youth, including youth with low intellectual functioning. Findings provided normative data, with cut-off scores according to age and gender, establishing four (calibrated) risk levels: Low, Moderate, High, and Very-High. The fourth risk level, Very-High Risk, sets MEGA ♪ apart from other risk assessment tools by the ability to assess those few most seriously concerning and/or dangerous youth, whereas other risk tools (with three risk levels) do not make this differentiation.

6.
J Child Sex Abus ; 29(3): 351-372, 2020 Apr.
Article in English | MEDLINE | ID: mdl-32134697

ABSTRACT

A new risk/treatment needs protocol for assessing "juveniles with sex offenses" operationalized in the Treatment Needs and Progress Scale (TNPS) was recently introduced, prompting quick embrace before any serious examination. This article critiques the proposed protocol and TNPS. Highlighted are misleading statements, substantial omissions related to review of research, and significant margins of TNPS underpinnings that cause considerable pause. Target population, essential to adopting and implementing TNPS, is not clearly stated. Multiple basic rudimentary steps are missing in the research protocol for two age groups. The "new" protocol appears to be a re-installment of the old one, applying templates from adult tools and empirical findings on adults to adolescents, thus treating youth like adults, an outdated stance in contemporary research and clinical practice related to risk assessment of sexually abusive youth..


Subject(s)
Child Abuse, Sexual , Sex Offenses , Adolescent , Adult , Child , Humans , Risk Assessment , Sexual Behavior
7.
J Child Adolesc Trauma ; 12(4): 457-467, 2019 Dec.
Article in English | MEDLINE | ID: mdl-32318215

ABSTRACT

Applied are empirical findings from two major studies employing the ecologically framed MEGA ♪ risk assessment tool: MEGA ♪ Combined Samples Studies (N = 3901 [1979-2017] (Miccio-Fonseca 2017a, d) and MEGA ♪ Combined Cross Validation Studies (N = 2717). Samples consisted of male, female, and transgender-female sexually abusive youth, ages 4-19, including youth with low intellectual functioning of borderline or low average. Findings further support a previously presented nomenclature identifying two subsets overlooked by most contemporary risk assessment tools: sexually violent and predatory sexually violent youth (Miccio-Fonseca and Rasmussen Journal of Aggression Maltreatment & Trauma, 18, 106-128, 2009, 2014). MEGA ♪ Studies provided normative data, with cut-off scores (calibrated) according to age and gender, establishing four risk levels: Low, Moderate, High, and Very High. The fourth risk level, Very High, sets MEGA ♪ apart from other risk assessment tools for sexually abusive youth, which are limited to three risk levels. Very High risk level definitively identifies the most dangerous youth, thus empirically supporting the nomenclature of sexually violent and predatory sexually violent youth.

8.
J Child Sex Abus ; 27(8): 871-900, 2018.
Article in English | MEDLINE | ID: mdl-30388940

ABSTRACT

Risk assessment of sexually abusive youth is a specialty, which ideally includes a clinical assessment (e.g., psychological evaluation) utilizing a validated risk assessment tool. This article reviews tools for assessing sexual improprieties and/or sexually abusive behaviors in youth: JSORRAT-II, J-SOAP-II, J-RAS, AIM2, and MEGA♪,1 and a clinical assessment tool, MIDSA. Untested, structured, clinical checklists with face validity, J-RAT-4 and PROFESOR, are included. The authors also highlight clinical dilemmas using "utility tools" (i.e., polygraph and plethysmograph) with sexually abusive youth. The comprehensive review sustains a twenty-first-century New Paradigm of inclusive ecologically based, developmentally and gender-sensitive assessment tools that definitively and accurately assess risk and protective factors of sexually abusive youth.


Subject(s)
Criminals/psychology , Sex Offenses/psychology , Adolescent , Child , Humans , Protective Factors , Risk Assessment , Risk Factors , Young Adult
9.
J Child Sex Abus ; 27(8): 901-917, 2018.
Article in English | MEDLINE | ID: mdl-30064305

ABSTRACT

The article provides a conceptual framework of variables likely interconnected to protective factors for sexually abusive youth associated with the Family Lovemap Aggregate of MEGA♪, a risk assessment tool for sexually abusive youth. Family Lovemap Aggregate is composed of the ingredients family's familial bio-physio-neuro-psycho-sexio-social history and culture including transmissible predispositions related to erotic development. Intimacy deficits are discussed, specifically their association to erotically related protective factors extrapolated from a variety of data points and sources. This includes findings of sizable study samples of the MEGA♪ validation (N = 1184), cross-validation (N = 1056), a second cross validation study (N = 543), a third cross-validation (N = 1,118 [1979-2017] Miccio-Fonseca, 2017c). Also included combined samples of cross validation studies (N = 2,717 [1979-2017] Miccio-Fonseca, 2017d); combined samples of validation and cross validation studies N = 3,901 [1979-2017] Miccio-Fonseca, 2017e).


Subject(s)
Criminals/psychology , Family/psychology , Adolescent , Child , Child Abuse, Sexual , Female , Humans , Male , Protective Factors , Risk Assessment
10.
J Child Sex Abus ; 26(1): 96-97, 2017 01.
Article in English | MEDLINE | ID: mdl-28212066

ABSTRACT

Response to Ross on his comments regarding my purported misunderstanding of Ross's article and the DSM-V (Ross, 2015). Although Ross claims he offered no personal opinions of any kind in his commentary, undeniably there were two separate and independent comments in (Miccio-Fonseca (2015) and DeFeo (2015) addressing similar issues. Is this coincidental? This author maintains the stance expressed in the cited commentary.


Subject(s)
Child Abuse, Sexual , Diagnostic and Statistical Manual of Mental Disorders , Child , Humans , Male
11.
J Child Sex Abus ; 24(2): 202-9, 2015.
Article in English | MEDLINE | ID: mdl-25747421

ABSTRACT

The recent commentary by Ross (2015) addresses concerns regarding the newly created Paraphilic Disorders section of the Diagnostic and Statistical Manual of Mental Disorders, fifth edition, and "inconsistencies." The author's statements reflect notable confusion regarding issues related to human sexuality and the categories thereof in the DSM-5 (e.g., gender dysphoria and pedophilic disorder). This is a response to Ross's commentary.


Subject(s)
Child Abuse, Sexual , Paraphilic Disorders , Diagnostic and Statistical Manual of Mental Disorders , Gender Dysphoria , Humans
12.
Int J Offender Ther Comp Criminol ; 59(11): 1222-38, 2015 Oct.
Article in English | MEDLINE | ID: mdl-24793314

ABSTRACT

Applied are empirical findings supporting the authors' previously presented nomenclature identifying two subsets of sexually abusive youth overlooked by most contemporary risk assessment tools: sexually violent and predatory sexually violent youth. The cross-validation findings on an ecologically framed risk assessment tool, MEGA (♪) (Multiplex Empirically Guided Inventory of Ecological Aggregates for Assessing Sexually Abusive Children and Adolescents [Ages 19 and Under]) (N = 1,056 male and female sexually abusive youth, ages 4-19, including youth with low intellectual functioning), from the United States, Canada, England, and Scotland, were utilized. Findings provided normative data, with cutoff scores according to age and gender. Most contemporary risk assessment tools have three levels (low, moderate, and high), which may in fact be limited in assessing the range of risk level. The MEGA (♪) cross-validation established a new range of risk level, with the fourth level (very high) definitively identifying the most dangerous youth, thus empirically supporting the nomenclature of sexually violent and predatory sexually violent youth.


Subject(s)
Dangerous Behavior , Risk Assessment , Sex Offenses , Adolescent , Canada , Child , Child, Preschool , England , Female , Humans , Male , Scotland , Terminology as Topic , United States , Young Adult
13.
Arq. neuropsiquiatr ; 69(2b): 297-303, 2011. tab
Article in English | LILACS | ID: lil-588087

ABSTRACT

OBJECTIVE: To evaluate the contribution of quantitative electroencephalographic (qEEG) analyses in the diagnosis of Alzheimer's disease (AD). METHOD: Thirty-five patients from the Neurology Outpatients Clinic of PUC-Campinas, diagnosed with AD according to the NINCDS/ADRDA were evaluated, and compared with a control group consisting of 30 individuals with no cognitive deficit. The procedures consisted of clinical-neurological, cognitive and behavioral analyses and the qEEG (absolute power and coherence). RESULTS: The AD group presented greater absolute power values in the delta and theta bands, greater theta/alpha indices and less frontal alpha and beta coherence. Logistic multiple regression models were constructed and those only showing variations in the qEEG (frontal alpha coherence and left frontal absolute theta power) showed an accuracy classification (72.3 percent) below that obtained in the mini-mental state examination (93 percent). CONCLUSION: The study of coherence and power in the qEEG showed a relatively limited accuracy with respect to its application in routine clinical practice.


OBJETIVO: Avaliar a contribuição das análises quantitativas do eletroencefalograma (qEEG) no diagnóstico da doença de Alzheimer (DA). MÉTODO: Foram avaliados 35 pacientes do ambulatório de Neurologia Clínica da PUC-Campinas, com o diagnóstico de DA segundo o NINCDS/ADRDA e comparados a 30 indivíduos, sem déficit cognitivo, de grupo controle. Os procedimentos foram avaliação clínico-neurológica, cognitiva e comportamental e EEGq (potência absoluta e coerência). RESULTADOS: O grupo DA apresentou maiores potências absolutas nas faixas delta e teta, maiores índices teta/alfa e menor coerência alfa e beta frontal. Foram construídos modelos de regressão múltipla logística e aquele que contou apenas com variáveis do EEGq (coerência alfa frontal e potência absoluta teta frontal esquerda) teve acurácia de classificação (72,3 por cento), inferior à obtida com o mini-exame do estado mental (93 por cento). CONCLUSÃO: O estudo de coerência e potência no qEEG tem acurácia relativamente limitada no sentido de aplicação prática clínica rotineira.


Subject(s)
Aged , Female , Humans , Male , Alzheimer Disease/diagnosis , Electroencephalography/methods , Alzheimer Disease/classification , Case-Control Studies , Logistic Models , Reproducibility of Results , Severity of Illness Index
14.
J Bioenerg Biomembr ; 42(5): 413-8, 2010 Oct.
Article in English | MEDLINE | ID: mdl-20857184

ABSTRACT

The stability of human erythrocytes to sodium dodecyl sulfate (SDS) was assessed spectrophotometrically in the presence of different concentrations of bovine serum albumin (BSA) and at different temperatures (27-45 °C). The absorbance at 540 nm (A540) was correlated with the SDS concentration by sigmoidal regression based on the Boltzmann equation. Erythrocyte stability was characterized on the basis of the SDS concentration that induces hemolysis in 50% of the cells (D50). Progressive increases in the albumin concentration led to increases in the D50 value. The protective effect of BSA against SDS-induced hemolysis was attributed to the binding of the surfactant to the hydrophobic binding sites of this protein. The D50 values decreased sigmoidally with an increase in the temperature. This trend, which could not be explained by changes in the spectral properties of hemoglobin, maybe due to heterogeneity in the erythrocyte population.


Subject(s)
Erythrocytes/metabolism , Serum Albumin, Bovine/pharmacology , Sodium Dodecyl Sulfate/toxicity , Temperature , Animals , Cattle , Erythrocytes/drug effects , Hemolysis , Humans , Regression Analysis , Sodium Dodecyl Sulfate/metabolism , Spectrophotometry, Ultraviolet
15.
Clin EEG Neurosci ; 40(3): 168-72, 2009 Jul.
Article in English | MEDLINE | ID: mdl-19715179

ABSTRACT

The objective of this study was to evaluate relationships between quantitative EEG (qEEG) changes and cognitive disturbance (mild cognitive impairment or dementia) and the motor disturbance stage in Parkinson's disease (PD). Thirty-two PD patients (age = 67.2 +/- 10.0) and 26 normal subjects (age = 68.4 +/- 4.7) were assessed using a neurological evaluation, modified Hoehn and Yahr (HY) scale for PD, a Portuguese version of the CERAD neuropsychological battery (consortium to establish a registry for Alzheimer's disease) incorporating the Mini-mental Status Examination, Clinical Dementia Rating and an EEG analysis of absolute and relative band amplitude at rest. Four groups were compared: three with PD (7 patients with dementia, 10 with mild cognitive impairment and 15 with no cognitive disturbances) and the control group. The qEEG showed no significant differences between the control group and PD patients without cognitive disturbance. Abnormalities on the qEEG were essentially associated with the occurrence of mild cognitive impairment or dementia in patients with PD. There was an increase in the absolute and relative posterior theta amplitude in the groups with mild cognitive impairment or dementia and of the posterior absolute and relative delta amplitude in the group with dementia This study suggested qEEG as a possible physiological tool in the assessment of cognitive aspects in PD.


Subject(s)
Cognition Disorders/diagnosis , Dementia/diagnosis , Diagnosis, Computer-Assisted/methods , Electroencephalography/methods , Parkinson Disease/diagnosis , Aged , Cognition Disorders/complications , Dementia/complications , Female , Humans , Male , Parkinson Disease/complications , Reproducibility of Results , Sensitivity and Specificity
16.
Clin EEG Neurosci ; 40(3): 200-3, 2009 Jul.
Article in English | MEDLINE | ID: mdl-19715184

ABSTRACT

Benign childhood epilepsy with centrotemporal spikes (BECTS) is common during childhood, but there are few reports in the literature recording the EEG during a seizure. We studied an 8-year-old boy with oropharyngeal seizures during wakefulness and sleep. Both his neuropsychomotor development and neurological examination were normal. While awake, the subjects's electroencephalogram (EEG) showed normal background activity and epileptiform activity characterized by spikes in the temporal regions (mid and anterior), central region of the right cerebral hemisphere and in the median central and parietal regions. During sleep, his EEG recorded an epileptic seizure that lasted 46 seconds. In the initial phase, the EEG showed an increase in the number of spikes with higher potential in the median central and parietal regions, followed by slow waves associated with the increase in slow waves in the right hemisphere. This was followed by a brief decrease in amplitude of the background activity, and then by rhythmic, diffuse discharges predominantly in the right centrotemporal region, of sharp waves at 12-13 Hz, with increasing potential. Slow waves of high amplitude then occurred for 5 seconds, and finally very high potential spikes reappeared in the central and temporal regions of the right cerebral hemisphere with normalization of the background activity. During these critical phases of the EEG, clonic lip movements and pouting could be observed with the mouth locked shut, associated with "throat noises," but there were no other motor manifestations. The child did not wake up during the seizure and there were no postictal signs or symptoms. Although there are some aspects in common in recordings of BECTS seizures, such as a reduction in amplitude followed by rhythmic discharges of increasing amplitude, differences exist that possibly correspond to the diverse characteristics of the electrical generators.


Subject(s)
Electroencephalography/methods , Epilepsy, Rolandic/classification , Epilepsy, Rolandic/diagnosis , Child , Humans , Male
17.
Dentomaxillofac Radiol ; 36(2): 121-4, 2007 Feb.
Article in English | MEDLINE | ID: mdl-17403893

ABSTRACT

The detection of osteomas in the maxillofacial region may be the initial clinical finding in Gardner's syndrome (GS). The most common location of osteomas is in the skull, but the lesion can also occur in the jaws. We present a case of a 47 year old male patient with GS who was referred for radiological evaluation. Extraoral examination revealed an epidermoid cyst and the patient had a history of intestinal polyps. A panoramic radiograph demonstrated numerous osteomas and diffuse sclerosis of the mandible, and compound odontomas with impacted teeth. CT scan allowed the localization and extension of the osteomas, and showed other sites in the maxillofacial region as well. CT images also revealed a different behaviour of osteoma, invading the mandibular canal.


Subject(s)
Gardner Syndrome/diagnostic imaging , Mandibular Neoplasms/diagnostic imaging , Adenomatous Polyps/diagnostic imaging , Humans , Male , Middle Aged , Odontoma/diagnostic imaging , Osteoma/diagnostic imaging , Osteosclerosis/diagnostic imaging , Radiography, Panoramic , Tomography, X-Ray Computed , Tooth, Impacted/diagnostic imaging
18.
J Child Sex Abus ; 16(1): 85-106, 2007.
Article in English | MEDLINE | ID: mdl-17255078

ABSTRACT

Previous definitions of sexually abusive behavior in children and adolescents were deficient in failing to (1) highlight salient neuropsychological elements and antisocial behaviors that may contribute to a youth's functioning; (2) discriminate among possible types of coercion (e.g., manipulation, threats, physical force, and use of weapons); and (3) include predatory elements of sexual abuse against strangers or casual acquaintances. This article discusses a new comprehensive assessment tool that assists in defining sexually abusive youth. This tool, the Multiplex Empirically Guided Inventory of Ecological Aggregates for Assessing Sexually Abusive Children and Adolescents (Ages 19 and under) (MEGA; Miccio-Fonseca, 2006b), encompasses neuropsychological elements, coercive aspects, and predatory elements as essential factors to consider in comprehensive assessments of sexually abusive youth.


Subject(s)
Adolescent Behavior/psychology , Child Abuse, Sexual/diagnosis , Conduct Disorder/diagnosis , Juvenile Delinquency/psychology , Risk Assessment/methods , Adolescent , Child , Child Abuse, Sexual/psychology , Conduct Disorder/psychology , Humans , Psychology, Adolescent , Psychometrics , Risk Factors
19.
Arq. neuropsiquiatr ; 63(3B): 817-824, set. 2005. tab, graf
Article in Portuguese | LILACS | ID: lil-445140

ABSTRACT

Epileptiform EEG discharges (EED) are a frequent finding in people with epilepsy, and may occur in other clinical conditions. Formal testing during EEG recording may demonstrate transitory cognitive impairment (TCI). Thirty patients (27 with epilepsy) with generalized or diffuse EED on a previous examination were studied. The interaction between EED and cognitive tasks was evaluated on subsequent EEG. The numbers of correct or incorrect answers were compared with the occurrence or absence of EED. Results were analyzed by non parametric tests. TCI was characterized in 43.3% of the patients. In 23.3% the EED were rare and it was not possible to evaluate the occurrence of TCI. The findings confirm that otherwise subclinical EED may be accompanied by TCI. There is a need of research to evaluate the relevance of TCI and to determine when EED should be treated.


Atividade epileptiforme (AE) no eletrencefalograma (EEG) é achado comum entre as crises epilépticas e, menos freqüentemente, em outras condições clínicas. AE "subclínica" pode estar acompanhada de distúrbio cognitivo transitório (DCT). Foram estudados 30 pacientes (27 com epilepsia) com AE generalizada ou difusa, freqüente, em EEG inicial. Em EEG subseqüente, foi avaliado o desempenho em testes de classificação visual de animais e objetos, discriminação de cores, memória verbal e auditiva, reconhecimento de padrões e estimação de tempo. Foi comparado, estatisticamente, o número de respostas corretas ou incorretas durante a AE e fora dela. DCT foi caracterizado em 43,3% dos casos. Em 23,3% a AE foi rara, não permitindo avaliação de DCT. Assim, pôde ser caracterizado comprometimento transitório de atividades cognitivas durante AE até então considerada "subclínica". Há necessidade de pesquisar a importância desse fator em pacientes com comprometimento cognitivo e de caracterizar as situações de eventuais benefícios na medicação dirigida à AE.


Subject(s)
Adult , Adolescent , Child , Female , Humans , Middle Aged , Male , Electroencephalography , Epilepsy/complications , Cognition Disorders/etiology , Chi-Square Distribution , Epilepsy/physiopathology , Memory, Short-Term/physiology , Neuropsychological Tests , Evoked Potentials/physiology , Cognition Disorders/physiopathology
20.
Hum Genet ; 106(1): 14-8, 2000 Jan.
Article in English | MEDLINE | ID: mdl-10982176

ABSTRACT

Previous studies have identified a susceptibility region for insulin-dependent (type 1) diabetes mellitus on chromosome 11q13 (IDDM4). In this study, 15 polymorphic markers were analyzed for 382 affected sibpair (ASP) families with type 1 diabetes. Our analyses provided additional evidence for linkage for IDDM4 (a peak LOD score of 3.4 at D11S913). The markers with strong linkage evidence are located within an interval of approximately 6 cM between D11S4205 and GALN. We also identified polymorphisms in two candidate genes, Fas-associated death domain protein (FADD) and galanin (GALN). Analyses of the data by transmission/disequilibrium test (TDT) and extended TDT (ETDT) did not provide any evidence for association/linkage with these candidate genes. However, ETDT did reveal significant association/linkage with the marker D11S987 (P=0.0004) within the IDDM4 interval defined by ASP analyses, suggesting that IDDM4 may be in the close proximity of D11S987.


Subject(s)
Bacterial Proteins/genetics , Chromosomes, Human, Pair 11 , Coenzyme A Ligases/genetics , Diabetes Mellitus, Type 1/genetics , Escherichia coli Proteins , Linkage Disequilibrium , Chromosome Mapping , DNA Mutational Analysis , Family Health , Galanin/genetics , Genetic Markers , Genetic Predisposition to Disease , Genotype , Humans , Microsatellite Repeats , Polymorphism, Genetic , Polymorphism, Single-Stranded Conformational
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