Prevalence of Mental Health Conditions Among 6078 Individuals With Down Syndrome in the United States.

Findings from a recent study of the largest documented cohort of individuals with Down syndrome (DS) in the United States described prevalence of common disease conditions and strongly suggested significant disparity in mental health conditions among these individuals as compared with age- and sex-matched individuals without DS. The retrospective, descriptive study reported herein is a follow-up to document prevalence of 58 mental health conditions across 28 years of data from 6078 individuals with DS and 30,326 age- and sex-matched controls. Patient data were abstracted from electronic medical records within a large integrated health system. In general, individuals with DS had higher prevalence of mood disorders (including depression); anxiety disorders (including obsessive-compulsive disorder); schizophrenia; psychosis (including hallucinations); pseudobulbar affect; personality disorder; dementia (including Alzheimer's disease); mental disorder due to physiologic causes; conduct disorder; tic disorder; and impulse control disorder. Conversely, the DS cohort experienced lower prevalence of bipolar I disorder; generalized anxiety, panic, phobic, and posttraumatic stress disorders; substance use disorders (including alcohol, opioid, cannabis, cocaine, and nicotine disorders); and attention-deficit/hyperactivity disorder. Prevalence of many mental health conditions in the setting of DS vastly differs from comparable individuals without DS. These findings delineate a heretofore unclear jumping-off point for ongoing research.

Prevalence of Infectious Diseases Among 6078 Individuals With Down Syndrome in the United States.

A recent disease prevalence study of the largest documented Down syndrome (DS) cohort in the United States strongly suggested significant disparity in general infectious disease conditions among individuals with DS versus those without DS. In this follow-up retrospective analysis, we explored these differences in greater detail by calculating prevalence of 52 infectious diseases, across 28 years of data among 6078 individuals with DS and 30,326 age- and sex-matched controls, abstracted from electronic medical records within a large Midwestern health system. We found that the DS cohort had higher prevalence of pneumonias (including aspiration, viral, bacterial, pneumococcal, and unspecified/atypical); otitis externa; and the skin infections impetigo, abscess, and cellulitis. To the contrary, the DS cohort had lower prevalence of many respiratory infections other than pneumonia (including influenza, strep pharyngitis, upper respiratory infection, sinusitis, tonsillitis, laryngitis, bronchitis, scarlet fever, and otitis media); sexually transmitted infections (including bacterial vaginosis, chlamydia, genital herpes, HIV/AIDS, human papillomavirus, pelvic inflammatory disease, and trichomoniasis); mononucleosis; shingles; unspecified hepatitis; intestinal infections; and enteritis. These findings highlight that individuals with DS could be more or less prone to different infectious diseases than their non-DS matched counterparts. Additional research to understand why these differences exist and how they might affect the clinical approach to patients with DS is warranted.

Prevalence of Endocrine Disorders Among 6078 Individuals With Down Syndrome in the United States.

Findings from a recent study describing prevalence of common disease conditions in the largest documented cohort of individuals with Down syndrome (DS) in the United States strongly suggested significant disparity in endocrine disorders among these individuals when compared with age- and sex-matched individuals without DS. This retrospective, descriptive study is a follow-up report documenting prevalence of 21 endocrine disorder conditions, across 28 years of data, from 6078 individuals with DS and 30,326 age- and sex-matched controls, abstracted from electronic medical records within a large integrated health system. Overall, individuals with DS experienced higher prevalence of adrenal insufficiency and Addison's disease; thyroid disorders, including hypothyroidism, hyperthyroidism, Hashimoto's disease, and Graves' disease; prolactinoma/hyperprolactinemia; diabetes insipidus; type I diabetes mellitus; and gout. Conversely, those with DS had lower prevalence of polycystic ovary syndrome and type II diabetes mellitus. Many prevalences of endocrine conditions seen in individuals with DS significantly differ relative to their non-DS matched counterparts. These varied findings warrant further exploration into how screening for and treatment of endocrine conditions may need to be approached differently for individuals with DS.

Prevalence of Common Disease Conditions in a Large Cohort of Individuals With Down Syndrome in the United States.

PURPOSE: Given the current life expectancy and number of individuals living with Down syndrome (DS), it is important to learn common occurrences of disease conditions across the developmental lifespan. This study analyzed data from a large cohort of individuals with DS in an effort to better understand these disease conditions, inform future screening practices, tailor medical care guidelines, and improve utilization of health care resources. METHODS: This retrospective, descriptive study incorporated up to 28 years of data, compiled from 6078 individuals with DS and 30,326 controls matched on age and sex. Data were abstracted from electronic medical records within a large Midwestern health system. RESULTS: In general, individuals with DS experienced higher prevalence of testicular cancer, leukemias, moyamoya disease, mental health conditions, bronchitis and pneumonia, gastrointestinal conditions, thyroid disorder, neurological conditions, atlantoaxial subluxation, osteoporosis, dysphagia, diseases of the eyes/adnexa and of the ears/mastoid process, and sleep apnea, relative to matched controls. Individuals with DS experienced lower prevalence of solid tumors, heart disease conditions, sexually transmitted diseases, HIV, influenza, sinusitis, urinary tract infections, and diabetes. Similar rates of prevalence were seen for lymphomas, skin melanomas, stroke, acute myocardial infarction, hepatitis, cellulitis, and osteoarthritis. CONCLUSIONS: While it is challenging to draw a widespread conclusion about comorbidities in individuals with Down syndrome, it is safe to conclude that care for individuals with DS should not automatically mirror screening, prevention, or treatment guidelines for the general U.S. population. Rather, care for those with DS should reflect the unique needs and common comorbidities of this population.

Breast cancer screening for women with Down syndrome: lessons learned.

This study examined mammogram reports of women with Down syndrome (DS) treated in the largest medical facility specifically serving adults with DS in the United States. Records of 684 women and results of 993 mammograms were reviewed, including 902 screening and 93 diagnostic mammograms. Only 2 (0.7%) women had a diagnosis of breast cancer. This study found a low rate of breast cancer among women with DS, a finding which is consistent with previous studies. The financial cost per finding was high, the benefit of the mammograms questionable, and the potential for harm greater. With less than 1% of the women with DS in this study developing breast cancer, further discussion is recommended to assess whether mammography is a beneficial, cost-effective part of health maintenance for women with DS.