Fatal gastrointestinal complications in <scp>Pitt‐Hopkins</scp> syndrome

Koppen, Ilan J.N.; Menke, Leonie A.; Westra, Wytske; Struik, Femke; Mesman, Simone; Wijk, Michiel P. van; Huisman, Sylvia

doi:10.1002/ajmg.a.63079

Cited by 5 publications

(5 citation statements)

References 12 publications

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“…Gastroenterological issues, particularly constipation, were a common problem among children with Pitt-Hopkins syndrome. In light of published reports on the potential for fatal complications arising from gastrointestinal disorders, particular attention should be paid to this issue [19]. Although constipation has been described in the literature, its frequency was lower than observed in the studied group [8,20].…”

Section: Discussionmentioning

confidence: 83%

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From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning

Telenga,

Rozensztrauch,

Giżewska-Kacprzak

et al. 2024

JCM

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Background: Pitt–Hopkins syndrome (PTHS) is a rare genetic disorder affecting psychomotor, social, and intellectual development, caused by a mutation in the TCF4 gene. The study aims to gather the phenotype and genotype data of PTHS patients from Poland and to assess the quality of life (QoL) and the impact of the disorders on the family. Methods: Eight families with PTHS participated in the study. To obtain data, the following standardized questionnaires were used: Questionnaire on Clinical Problems (QCP), the PedsQL™ Family Impact Module, and the QL-Disability Questionnaire. Additionally, a retrospective analysis of clinical examination, genetic consult, medical history, and genotype of each individual was performed. Results: All of the examined children exhibited a mutation in the TCF4 gene and typical features of PTHS. The most prevalent clinical symptoms in the study group included typical PTHS appearance, intellectual disability (n = 5; as the rest of the patients were too young to be assessed), abnormal speech development (n = 8), reduced pain response (n = 7), constipation (n = 7), drooling (n = 7), cold extremities (n = 7), and disturbances in sensory integration processes (n = 7). The QL-Disability Questionnaire revealed a total QoL score of 67.7/100 for children with PTHS, while the QoL for their families in the PedsQL Family Impact Module was 53.82/100. The highest-rated domain was cognitive functioning (Median (Me) = 67.50; Standard Deviation (SD) = 21.95), while the lowest was daily activities (Me = 25.00; SD = 29.86). Conclusions: The study allowed the collection of data on the phenotype and genotype of children with PTHS living in Poland. Overall, our study showed that the QoL of children with PTHS is impaired.

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Section: Discussionmentioning

confidence: 83%

“…= PLN 2000-3000, SD = 1. 19). In only one family, both parents were employed, while in the remaining families, in six out of seven cases, the child's illness led the mother resigning from work.…”

Section: Functioning Of Families With Pthsmentioning

confidence: 99%

From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning

Telenga,

Rozensztrauch,

Giżewska-Kacprzak

et al. 2024

JCM

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“…There is one case report describing two young adults with Pitt-Hopkins syndrome who died secondary to acute gastrointestinal complications 12. Both suffered from severe refractory constipation and one had an antegrade continence enema caecostomy in situ for treatment of the same.…”

Section: Discussionmentioning

confidence: 99%

Complex visceral hyperalgesia in an adolescent with Pitt-Hopkins syndrome

Reaney,

Collins

2024

BMJ Case Rep

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An early-adolescent boy with a background of Pitt-Hopkins syndrome was transferred to a tertiary paediatric hospital with symptoms of a functional large bowel obstruction. He required extensive surgical intervention including a transverse colectomy, drainage of an abdominal abscess, laparotomy and adhesionolysis, and insertion of a gastrostomy and jejunostomy. He had significant ongoing issues with visceral hyperalgesia that was refractory to a wide range of pharmacological treatments and required admission to the intensive care unit on multiple occasions, and consultations with international experts in Pitt-Hopkins syndrome and pain specialists. An individualised pain plan was created and adjusted over time, with eventual good effect, and he was transferred back to his regional hospital and subsequently discharged home.

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“…Poor oral health in patients with PTHS might cause pain, infection, sialorrhea, bad breath, loss of ability to eat, and systemic inflammation leading to impaired overall quality of life [ 19 ]. In fact, patients with PTHS often suffer from constipation and gastrointestinal dysmotility, this might be contributed, at least partially, by the inadequate chewing and the tendency to eat soft food because of the prolonged chewing cycle [ 15 , 20 ]. Oral health care professionals, therefore, should be part of the multidisciplinary care approach for patients with PTHS.…”

Section: Discussionmentioning

confidence: 99%

Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations

Hassona,

Alqaisi,

Alkilani

et al. 2024

BMC Oral Health

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Background Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder with physical, cognitive, and behavioral characteristics that is caused by heterozygous mutations in the TCF4 gene. Patients with PTHS might present a unique challenge for oral healthcare professionals because of the associated comorbidities. Case report Here we describe a new case of PTHS in a 13-year-old girl with particular emphasis on oro-dental findings and oral healthcare management. Observed oro-dental findings in our case included shallow palate, absence of lingual frenum, gingival enlargement, thick lips and relative microdontia. The patient was unable to tolerate dental care under local anesthesia. Therefore, comprehensive dental treatment was performed under general anesthesia after a careful pre-anesthetic cardio-respiratory, neurological, and hematological evaluation. The patient was closely monitored intra-operatively for breathing rhythm, O2 saturation, and signs of respiratory distress. The patient was observed for 24 h post-op for respiratory distress and was discharged then uneventfully. Conclusion Dental treatment under general anesthesia in these patients might be complicated by the abnormal breathing rhythm, and close monitoring and follow up for signs of respiratory distress after general anesthesia is necessary. Recognition of oral and dental findings might help to expand the phenotype and better characterize rare syndromes.

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Fatal gastrointestinal complications in Pitt‐Hopkins syndrome

Cited by 5 publications

References 12 publications

From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning

From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning

Complex visceral hyperalgesia in an adolescent with Pitt-Hopkins syndrome

Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations

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