Potocki-Lupski Syndrome: A Microduplication Syndrome Associated with Oropharyngeal Dysphagia and Failure to Thrive

Abstract

Objective Failure to thrive (FTT) is a feature of children with Potocki-Lupski syndrome (PTLS) [duplication 17p11.2]. This study was designed to describe the growth characteristics of 24 subjects with PTLS from birth through age 5 years in conjunction with relevant physical features and swallow function studies. Study design We evaluated 24 individuals with PTLS who were ascertained by chromosome analysis and/or array comparative genome hybridization. Clinical assessments included review of medical records, physical examination, otolaryngological examination, and swallow function studies. Measures of height and weight were converted to Z-scores. Results The mean weight-for-age and weight-for-length Z-scores at birth were lower (P < .01) than the reference standard and did not change with age. A history of poor feeding, hypotonia, and FTT were reported in 92%, 88%, and 71%, respectively. Individuals with hypotonia had lower weight-for-age and body mass index-for-age Z-scores (P = .01). Swallow function studies demonstrated at least one abnormality in all subjects. Conclusions FTT is common in children with PTLS. We hypothesize that oropharyngeal dysphagia and hypotonia likely contribute to FTT in patients with PTLS and recommend that once a diagnosis is established, the individual be assessed for feeding and growth issues and be availed of oromotor therapy and nutritional services.

Cytogenomic Aberrations in Congenital Cardiovascular Malformations

“…Infantile hypotonia, failure to thrive, intellectual disability, poor feeding, oropharyngeal dysplasia, and sleep apnea are some of the characteristic features [Potocki et al, 2007;Soler-Alfonso et al, 2011]. Approximately 40% of individuals with Potocki-Lupski syndrome have CHD [Jefferies et al, 2012].…”

Genetic determinants of swallowing impairment, recovery and responsiveness to treatment

“…COMT gene (OMIM 116790; cytogenetic location: 22q11.21) encodes the protein which catalyses the inactivation of catecholamine neurotransmitters and catechol hormones. COMT protein shortens the biological half-lives of certain neuroactive drugs such as L-dopa [35]. Interestingly, the status of two interactive SNPS from COMT polymorphism rs165599 and the BDNF polymorphism rs10835211 was shown to predict dysphagia in this cohort of elderly individuals.…”

Advances in Autism Research – The Genomic Basis of ASD

“…PTLS patients lack the self-injurious behaviors, abnormal facies, and sleep disturbance, as well as some of the congenital anomalies found in most individuals with SMS. The features observed in greater than 90% of PTLS patients are developmental delay, neurobehavioral abnormalities, language impairment, cognitive impairment, poor feeding, hypotonia, and oropharyngeal dysphasia [15,90]. When evaluated by objective clinical assessment, the majority of PTLS patients have autistic features such as decreased eye contact, atypicality, withdrawal, anxiety, and inattention, meeting criteria for a diagnosis of autistic spectrum disorder (ASD) or pervasive developmental disorder not otherwise specified, and making ASD the most common and consistent feature observed in PTLS.…”