ABSTRACT
Symptoms related to avoidant/restrictive food intake disorder (ARFID) are not well defined in the general population. The aim of this study was to determine whether differences exist in the presentation of ARFID-related eating disturbances between healthy, religious and secular Jewish children in Israel. Sixty-four families participated in this study. Parents completed standardized questionnaires to assess ARFID behaviors of children, parental feeding problems and overall functioning, anxiety and sensory-aversion. No significant between-group differences were found for almost all assessments. However, sensory-related pleasure and sensory-seeking behavior was greater in secular children. Overall, religious and non-religious Israeli children do not differ in parental-reported ARFID-related feeding and eating behaviors.
Subject(s)
Avoidant Restrictive Food Intake Disorder , Feeding and Eating Disorders , Child , Humans , Israel , Jews , Eating , Retrospective StudiesABSTRACT
Avoidant/restrictive food intake disorder (ARFID) is a relatively new diagnostic category. We sought to determine whether the Stanford Feeding Questionnaire (SFQ), an instrument for assessing picky eating, can differentiate children with ARFID from control children, and whether children with ARFID would show more nonfeeding/eating emotional problems than controls. Fifty children with ARFID were compared to 98 controls. Parents completed the SFQ, Screen for Child Anxiety Related Emotional Disorders (SCARED), Strength and Difficulties Questionnaire (SDQ), and Sensory Responsiveness Questionnaire (SRQ). On the SFQ, 12 items represented child ARFID behaviors (SFQ-ARFID Scale), and another 15 items represented parental feeding problems (SFQ-PFP Scale). We found that the SFQ-ARFID and SFQ-PFP Scale scores were significantly higher in children with ARFID vs. controls. Children with ARFID demonstrated higher SDQ-Total-Difficulties, higher SDQ-Internalizing-Difficulties and lower SRQ-Hedonic scores compared with controls. Of all parameters, the SFQ-ARFID Scale best differentiated children with ARFID from control children (area under receiver operating characteristics curve = 0.939, 95% CI, 0.895-0.983, p < 0.001). These findings suggest that parental reports show more eating problems and emotional disturbances in children with ARFID vs. controls, and more parental feeding problems. Further research is required to determine whether the SFQ-ARFID Scale may serve as an effective screening tool for the identification of ARFID.
Subject(s)
Avoidant Restrictive Food Intake Disorder , Emotions , Feeding and Eating Disorders/psychology , Anxiety/psychology , Case-Control Studies , Child , Feeding Behavior , Female , Humans , Male , Parents , Psychometrics , Surveys and QuestionnairesABSTRACT
CONTEXT: Loss-of-function mutations in the coding region of MKRN3, a maternally imprinted gene at chromosome 15q11.2, are a common cause of familial central precocious puberty (CPP). Whether MKRN3 alterations in regulatory regions can cause CPP has not been explored to date. We aimed to investigate potential pathogenic variants in the promoter region of MKRN3 in patients with idiopathic CPP. PATIENTS/METHODS: A cohort of 110 patients with idiopathic CPP was studied. Family history of precocious sexual development was present in 25%. Mutations in the coding region of MKRN3 were excluded in all patients. Genomic DNA was extracted from peripheral blood leukocytes, and 1,100 nucleotides (nt) of the 5'-regulatory region of MKRN3 were amplified and sequenced. Luciferase assays were performed in GT1-7 cells transiently transfected with plasmids containing mutated and wild-type MKRN3 promoter. RESULTS: We identified a rare heterozygous 4-nt deletion (c.-150_-147delTCAG; -38 to -41 nt upstream to the transcription start site) in the proximal promoter region of MKRN3 in a girl with CPP. In silico analysis predicted that this deletion would lead to the loss of a binding site for a downstream res-ponsive element antagonist modulator (DREAM), a potential transcription factor for MKRN3 and GNRH1 expression. Luciferase assays demonstrated a significant reduction of MKRN3 promoter activity in transfected cells with a c.-150_- 147delTCAG construct plasmid in both homozygous and heterozygous states when compared with cells transfected with the corresponding wild-type MKRN3 promoter region. CONCLUSION: A rare genetic alteration in the regulatory region of MKRN3 causes CPP.
