Understanding type and quality of relationships between individuals with chromosome 18 syndromes and their siblings.

Siblings of individuals with disabilities hold a pivotal and sometimes unappreciated position in the lives of their brother or sister. We sought to understand the unique challenges and opportunities in relationships between children with chromosome 18 conditions and their siblings and to identify the ways to support this relationship. Participants were recruited through the lay advocacy organization, the Chromosome 18 Registry & Research Society.

Using Latent Class Analysis to Support the ICD-11 Complex Posttraumatic Stress Disorder Diagnosis in a Sample of Homeless Adults.

The 11th revision of the International Classification of Diseases (ICD-11), ratified at the World Health Assembly in May 2019, introduced revised diagnostic guidelines for posttraumatic stress disorder (PTSD) as well as a separate diagnosis of complex PTSD (CPTSD). We aimed to test the new ICD-11 symptom structure for PTSD and CPTSD in a sample of individuals who have experienced homelessness. Experiences of trauma exposure and the associated mental health outcomes have been underresearched in this population.

A review of 18p deletions.

Since 18p- was first described in 1963, much progress has been made in our understanding of this classic deletion condition. We have been able to establish a fairly complete picture of the phenotype when the deletion breakpoint occurs at the centromere, and we are working to establish the phenotypic effects when each gene on 18p is hemizygous. Our aim is to provide genotype-specific anticipatory guidance and recommendations to families with an 18p- diagnosis.

Consequences of chromsome18q deletions.

Providing clinically relevant prognoses and treatment information for people with a chromsome18q deletion is particularly challenging because every unrelated person has a unique region of hemizygosity. The hemizygous region can involve almost any region of 18q including between 1 and 101 genes (30 Mb of DNA). Most individuals have terminal deletions, but in our cohort of over 350 individuals 23% have interstitial deletions.

Tetrasomy 18p: report of cognitive and behavioral characteristics.

Our purpose was to describe intellectual and behavioral characteristics of persons with tetrasomy 18p. This is a more detailed investigation into the cognitive and behavioral characteristics of our previously reported tetrasomy 18p cohort of 43 plus six additional participants. We evaluated the intellectual functioning using standard measures of cognitive ability, measures of executive functioning, adaptive and maladaptive behaviors.

Whole arm deletions of 18p: medical and developmental effects.

Deletions of the short arm of chromosome 18 have been well-described in case reports. However, the utility of these descriptions in clinical practice is limited by varied and imprecise breakpoints. As we work to establish genotype-phenotype correlations for 18p-, it is critical to have accurate and complete clinical descriptions of individuals with differing breakpoints.

Adults with Chromosome 18 Abnormalities.

The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child's future. In the case of rare chromosome conditions, a lack of longitudinal data often makes it difficult to provide anticipatory guidance to these families.

Cortical Volume Alterations in Conduct Disordered Adolescents with and without Bipolar Disorder.

Background: There is increasing evidence that bipolar disorder (BD) and conduct disorder (CD) are co-occurring disorders. Magnetic resonance imaging has revealed differences in the structure and function of the frontal cortex in these disorders when studied separately; however, the impact of BD comorbidity on brain structure in adolescents with CD has not yet been examined.

Method: We conducted an optimized voxel based morphometry (VBM) study of juvenile offenders with the following diagnoses: conduct disorder with comorbid bipolar disorder (CD-BD; n = 24), conduct disorder without bipolar disorder (CD; n = 24) and healthy controls (HC, n = 24).

Establishing a reference group for distal 18q-: clinical description and molecular basis.

Although constitutional chromosome abnormalities have been recognized since the 1960s, clinical characterization and development of treatment options have been hampered by their obvious genetic complexity and relative rarity. Additionally, deletions of 18q are particularly heterogeneous, with no two people having the same breakpoints. We identified 16 individuals with deletions that, despite unique breakpoints, encompass the same set of genes within a 17.

Mood disorders in individuals with distal 18q deletions.

We examined 36 participants at least 4 years old with hemizygous distal deletions of the long arm of Chromosome 18 (18q-) for histories of mood disorders and to characterize these disorders clinically. Since each participant had a different region of 18q hemizygosity, our goal was also to identify their common region of hemizygosity associated with mood disorders; thereby identifying candidate causal genes in that region. Lifetime mood and other psychiatric disorders were determined by semi-structured interviews of patients and parents, supplemented by reviews of medical and psychiatric records, and norm-referenced psychological assessment instruments, for psychiatric symptoms, cognitive problems, and adaptive functioning.

Improving student comfort with death and dying discussions through facilitated family encounters.

Objective: The purpose of this study was to explore the educational potential for a collaboration between palliative medicine and psychiatry designed to improve first-year medical students' knowledge and comfort with end-of-life issues through a facilitated small-group discussion with family members of recently-deceased loved ones.

Methods: A group of 222 first-year medical students were divided into 14 small groups. Each group also consisted of two mental-health providers, one palliative-medicine interdisciplinary team member, and one family member of a recently-deceased hospice patient.

The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.

The goal of this study is to define the effects of TCF4 hemizygosity in the context of a larger segmental deletion of chromosome 18q. Our cohort included 37 individuals with deletions of 18q. Twenty-seven had deletions including TCF4 (TCF4 (+/-)); nine had deletions that did not include TCF4 (TCF4 (+/+)); and one individual had a microdeletion that included only the TCF4 gene.

Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals.

Thus far, the phenotype of tetrasomy 18p has been primarily delineated by published case series and reports. Findings reported in more than 25% of these cases include neonatal feeding problems, growth retardation, microcephaly, strabismus, muscle tone abnormalities, scoliosis/kyphosis, and variants on brain MRI. Developmental delays and cognitive impairment are universally present.

Genetic determinants of autism in individuals with deletions of 18q.

Previous research has suggested that individuals with constitutional hemizygosity of 18q have a higher risk of autistic-like behaviors. We sought to identify genomic factors located on chromosome 18 as well as other loci that correlate with autistic behaviors. One hundred and five individuals with 18q- were assessed by high-resolution oligo aCGH and by parental ratings of behavior on the Gilliam Autism Rating Scale.

Quantifying asthma symptoms in adults: the Lara Asthma Symptom Scale.

Background: Accurate assessment of asthma symptoms is critical in research and clinical settings. A multidimensional asthma control questionnaire could provide more accurate information about asthma symptoms than global assessments, which often overestimate asthma control.

Objective: We sought to evaluate the efficacy of the Lara Asthma Symptom Scale (LASS) in adults with persistent asthma.

Neuropsychological deficits in adolescents with conduct disorder and comorbid bipolar disorder: a pilot study.

Objective: We report pilot data on neuropsychological deficits in aggressive juvenile offenders with and without bipolar disorder compared with each other and healthy controls.

Method: We assessed 52 adolescents and their parent or guardians: 36 incarcerated juvenile offenders and 16 community controls using the Schedule for Affective Disorders and Schizophrenia for School Age Children, Present and Life-Time Version and a neuropsychological testing battery. All incarcerated subjects (n=34) met criteria for Conduct Disorder (CD); 26 are classified as Non-BD-CD, and eight with CD and Bipolar disorder (CD-BD).