Cognitive abilities of patients with Lesch-Nyhan disease
Male; Child; Humans; Adult; Adolescent; Female; Child Preschool; Social Environment; Combined Modality Therapy; Social Adjustment; Social Behavior; Behavior Therapy; Awareness; Intelligence; Neuropsychological Tests; Achievement; Lesch-Nyhan Syndrome/di [Diagnosis]; Intellectual Disability/di [Diagnosis]; Intellectual Disability/px [Psychology]; Intellectual Disability/th [Therapy]; Language Development Disorders/di [Diagnosis]; Language Development Disorders/px [Psychology]; Language Development Disorders/th [Therapy]; Lesch-Nyhan Syndrome/px [Psychology]; Lesch-Nyhan Syndrome/th [Therapy]; Self-Injurious Behavior/di [Diagnosis]; Self-Injurious Behavior/px [Psychology]; Self-Injurious Behavior/th [Therapy]; Thinking; alertness; behavioral; Lesch-Nyhan syndrome; trajectory; characteristics; attempted suicide; suicide
Parents of 42 patients with Lesch-Nyhan disease completed a questionnaire systematizing caregiver observations of the subject's behavior during a wide variety of daily events. Responses were grouped in nine categories reflecting different aspects of cognitive skills. Only 1 boy appears to have any significant generalized cognitive impairment. The patients' memory for both recent and past events is excellent, their emotional life has a normal range of reactions and is appropriate; they have good concentration, are capable of abstract reasoning, have good self-awareness, and are highly social. However, they are behind in academic ability, with only 15% at grade level for math and reading. Implications for designing educational activities, parenting or caregiver strategies, and research methodology are discussed.
Anderson L T; Ernst M; Davis S V
Journal of Autism and Developmental Disorders
1992
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/bf01058150" target="_blank" rel="noreferrer noopener">10.1007/bf01058150</a>
Talking to parents about their preferences for their child's place of death: A prospective study
hospice; government; advanced cancer; major clinical study; prospective study; case study; outcome assessment; hematologic malignancy; solid malignant neoplasm; conference abstract; human; child; female; palliative therapy; patient care; death; multidisciplinary team; clinician; achievement; social aspect
Background Government policy identifies home as the preferred place of death (PPOD) for children and young people (CYP) and suggests a home death as an indicator of the quality of care. A recent systematic review found a lack of compelling evidence for both home as the preferred place of death and the suitability of home death as a quality outcome. Rather, one study suggested that offering a discussion is more important for outcomes. Despite these findings, the achievement of preference remains a common quality measure of paediatric palliative care (PPC) services. This study explored factors which influenced the initiation of discussions, preferences, achievement of preferences and their value as an outcome measure. Methods A prospective case series review was conducted from March 2015-February 2017. Data included: 1) Routinely collected PPC PPOD data for CYP and their parents including the offer of a discussion, preferences expressed and if preference was achieved 2) Field notes taken at multidisciplinary team (MDT) meetings between clinicians where preference was discussed after the child's death 3) Advanced care planning and place of care data extracted from medical notes. Results Data was available for 256 CYP (117 female). 29% of CYP had a solid tumour malignancy, 10% had a haematological malignancy and 61% died of non-malignant disease. Parents of CYP with malignancies were more likely to be offered a discussion of PPOD (60/73 compared to 84/156 of those with non-malignant disease). A hospital was preferred by 38%, home 28% and hospice 18%. Preference for hospital or hospice was more likely to be achieved. Per clinician report, parent preference was influenced by patient condition, continuity of care, family and social factors and availability of services. Conclusion Contrary to government policy and voluntary sector statements home deaths are not preferred by most parents. Achievement of PPOD is unsuitable as a measure of service performance.
Henderson E; Peake J; Al-Khabbaz E; Langner R; Dinsdale A; Craig F; Bluebond-Langner M
Archives of Disease in Childhood
2018
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1136/goshabs.18" target="_blank" rel="noreferrer noopener"> 10.1136/goshabs.18</a>