Results 141 to 150 of about 208,093 (305)
Introduction: In dementia, wandering is a challenging and distressing behavioral problem. The caregiver burden will differ between the group of persons with dementia with or without wandering behavior.
K. N. Anu +5 more
doaj
Background Quantifying the informal caregiver burden is important for understanding the risk factors associated with caregiver overload and for evaluating the effectiveness of services provided in Long-term Care (LTC).
Shuo-Chen Chien +13 more
doaj +1 more source
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
Factors Associated With Perceived Burden, Resourcefulness, and Quality of Life in Female Family Members of Adults With Serious Mental Illness [PDF]
BACKGROUND: Each year, 54 million American adults are affected by serious mental illness. Most of these persons depend on female family members for support or assistance, and unless these women are resourceful, they may experience considerable burden ...
Bekhet, Abir +2 more
core +1 more source
Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome
ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif +3 more
wiley +1 more source
The 9th International RASopathies Symposium
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn +11 more
wiley +1 more source
Hui Lv,1,2,* Shujie Yang,1,* Yuxi Zhang,1 Yingyue Wang,3 Lijiang Zhang,1 Jingjing Wang,1 Hui Jiang1 1Institutes of Health Central Plains, Xinxiang Medical University, Xinxiang, Henan Province, People’s Republic of China; 2The First Affiliated ...
Lv H +6 more
doaj
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source

