ABSTRACT
OBJECTIVES : In the midst of large-scale changes across our nation's health care system, including the Affordable Care Act and Patient-Centered Medical Home initiatives, integrated primary care models afford important opportunities for those in the field of pediatric psychology. Despite the extensive and growing attention, this subspecialty has received in recent years, a comprehensive set of core professional competencies has not been established. METHODS : A subset of an Integrated Primary Care Special Interest Group used two well-established sets of core competencies in integrated primary care and pediatric psychology as a basis to develop a set of integrated pediatric primary care-specific behavioral anchors. CONCLUSIONS : The current manuscript describes these behavioral anchors and their development in the context of professional training as well as with regard to Triple Aim goals and securing psychology's role in integrated pediatric primary care settings.
Subject(s)
Delivery of Health Care, Integrated/standards , Primary Health Care/standards , Professional Competence , Psychology, Child/standards , Child , Humans , United StatesABSTRACT
BACKGROUND: Classic galactosemia is an autosomal recessive disorder due to galactose-1-phosphate uridyltransferase (GALT) deficiency. Newborn screening and early treatment do not completely prevent tremor, speech deficits, and diminished IQ in both sexes and premature ovarian insufficiency (POI) in women. Data on how individuals with galactosemia fare as adults will improve our ability to predict disease progression. METHODS: Thirty-three adults (mean age = 32.6 ± 11.7 years; range = 18-59) with classic galactosemia, confirmed by genotype and undetectable GALT enzyme activity, were evaluated. Analyses assessed associations among age, genotype, clinical features and laboratory measures. RESULTS: The sample included 17 men and 16 women. Subjects exhibited cataracts (21%), low bone density (24%), tremor (46%), ataxia (15%), dysarthria (24%), and apraxia of speech (9%). Subjects reported depression (39%) and anxiety (67%). Mean full scale IQ was 88 ± 20, (range = 55-122). All subjects followed a dairy-free diet and 75-80% reported low intake of calcium and vitamin D. Mean height, weight and body mass were within established norms. All female subjects had been diagnosed with POI. One woman and two men had had children. Logistic regression analyses revealed no associations between age, genotype or gender with IQ, tremor, ataxia, dysarthria, apraxia of speech or anxiety. Each 10- year increment of age was associated with a twofold increase in odds of depression. CONCLUSIONS: Taken together, these data do not support the hypothesis that galactosemia is a progressive neurodegenerative disease. However, greater attention to depression, anxiety, and social relationships may relieve the impact of this disorder in adults.
Subject(s)
Galactosemias/diagnosis , Adolescent , Adult , Disease Progression , Female , Galactosemias/enzymology , Galactosemias/genetics , Genotype , Humans , Infant, Newborn , Male , Middle Aged , Neonatal Screening/methods , Neurodegenerative Diseases/enzymology , Neurodegenerative Diseases/etiology , Neurodegenerative Diseases/metabolism , Phenotype , UTP-Hexose-1-Phosphate Uridylyltransferase/deficiency , UTP-Hexose-1-Phosphate Uridylyltransferase/genetics , Young AdultSubject(s)
Confidentiality , Electronic Data Processing/methods , Pediatrics/methods , Physician-Patient Relations , Privacy , Child , Communication , HumansABSTRACT
BACKGROUND: The existing literature has conflicting findings about the literacy outcome of children with speech sound disorders (SSD), which may be due to the heterogeneity within SSD. Previous studies have documented that two important dimensions of heterogeneity are the presence of a comorbid language impairment (LI) and the persistence of SSD, but these factors have not been examined separately. METHOD: The current study used a 2 x 2 MANOVA design (with follow-up MANCOVAs) to examine how a comorbid language impairment (LI) and the persistence of SSD relate to pre-literacy skills in a sample of 5- to 6-year-old children with SSD. RESULTS: Significant main effects for persistent SSD and LI were obtained, such that each factor was associated with worse performance on pre-literacy tasks, particularly those assessing phonological awareness (even with nonverbal IQ covaried). In addition, even SSD children with normalized speech without LI were found to have deficits on phonological awareness tasks relative to control participants. CONCLUSIONS: These results suggest that a history of SSD and comorbid LI are strong correlates of pre-literacy deficits.