Parent‐Offspring and Sibling Adoption Analyses of Parental Ratings of Temperament in Infancy and Childhood

AbstractKindler syndrome (KS) is a rare photosensitivity disorder with autosomal recessive mode of inheritance. It is characterized by acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Besides these major features, many minor presentations have also been reported in the literature. We are reporting two cases with atypical features of the syndrome and a new feature of recurrent neutropenia. Whole exome sequencing analysis was done using next-generation sequencing which detected a homozygous loss-of-function (LOF) variant of FERMT1 in both patients. The variant is classified as a pathogenic variant as per the American College of Medical Genetics and Genomics guidelines. Homozygous LOF variants of FERMT1 are a common mechanism of KS and as such confirm the diagnosis of KS in our patients even though the presentation was atypical.

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Food Allergy in Infancy and Childhood

10.1007/978-3-642-74357-3 ◽

1989 ◽

Keyword(s):

Food Allergy ◽

Infancy And Childhood

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Faculty Opinions recommendation of Association between paracetamol use in infancy and childhood, and risk of asthma, rhinoconjunctivitis, and eczema in children aged 6-7 years: analysis from Phase Three of the ISAAC programme.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1122990.591920 ◽

2008 ◽

Author(s):

Paul Seddon

Keyword(s):

Infancy And Childhood

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Femoral hernia in infancy and childhood

Journal of Pediatric Surgery ◽

10.1016/0022-3468(72)90400-9 ◽

1972 ◽

Vol 7 (1) ◽

pp. 40-43 ◽

Cited By ~ 16

Author(s):

Peter A. Immordino

Keyword(s):

Femoral Hernia ◽

Infancy And Childhood

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Clinical Evaluation of the Variables associated with Treatment Acceptability and Their Relation to Compliance

Behavioral Disorders ◽

10.1177/019874299201800108 ◽

1992 ◽

Vol 18 (1) ◽

pp. 67-76 ◽

Cited By ~ 36

Author(s):

Thomas M. Reimers ◽

David P. Wacker ◽

Linda J. Cooper ◽

Agnes O. Deraad

Keyword(s):

Behavior Problem ◽

Behavior Management ◽

Positive Reinforcement ◽

Treatment Acceptability ◽

Clinic Visit ◽

Future Research ◽

Parental Ratings ◽

Problem Severity ◽

The Relationship

The authors examined the acceptability ratings of positive reinforcement procedures recommended to parents seen in a pediatric behavior management outpatient clinic. Parental ratings of acceptability were obtained in the clinic and 1, 3, and 6 months following their initial clinic visit. Acceptability variables were examined by group (parents who rated the acceptability of treatments as high vs. low) and by severity (parents who rated their children's behavior problem as severe vs. mild). The relationship between these variables and reported compliance was also examined. Results show that the acceptability variables were useful in differentiating between parents who rated treatments to be more acceptable and parents who rated treatments to be less acceptable. Differences were also observed as a function of behavior problem severity. Significant correlations occurred between acceptability variables and compliance at each of the follow-up points. Results are discussed in relation to the clinical significance of these findings and the impetus they might serve for future research.

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