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Phenotypes
Original research
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
  1. Saskia Koene1,
  2. Fabiënne Gwendolin Ropers2,
  3. Jannelien Wieland3,
  4. Tamara Rybak4,
  5. Floor Wildschut5,
  6. Dagmar Berghuis2,
  7. Angela Morgan6,7,
  8. Maria Pilar Trelles8,9,
  9. Jeroen Ronald Scheepe10,
  10. Regina Bökenkamp11,
  11. Cacha M P C D Peeters-Scholte12,
  12. Ruth Braden13,
  13. Gijs W E Santen1
  1. 1 Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands
  2. 2 Department of Pediatrics, Leiden University Medical Center, Leiden, Netherlands
  3. 3 Department of Child and Adolescent Psychiatry, Leiden University Medical Center, Leiden, Netherlands
  4. 4 's Heeren Loo Zorggroep, Amersfoort, Netherlands
  5. 5 Clinical Neurodevelopmental Sciences, Leiden University Clinical and Adolescent Child Studies, Leiden, Netherlands
  6. 6 Victorian Clinical Genetics Service and Speech and Language, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia
  7. 7 Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
  8. 8 Icahn School of Medicine at Mount Sinai, New York, New York, USA
  9. 9 Department of Psychiatry and Human Behaviour, Brown University, Providence, Rhode Island, USA
  10. 10 Pediatric Urology, Erasmus MC, Rotterdam, Netherlands
  11. 11 Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, Netherlands
  12. 12 Neurology, Leiden University Medical Center, Leiden, Netherlands
  13. 13 Speech and Language, Murdoch Children's Research Institute, Parkville, Victoria, Australia
  1. Correspondence to Dr Saskia Koene, Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands; s.koene{at}lumc.nl

Abstract

Background The first studies on patients with forkhead-box protein P1 (FOXP1) syndrome reported associated global neurodevelopmental delay, autism symptomatology, dysmorphic features and cardiac and urogenital malformations. The aim of this study was to assess the prevalence of congenital abnormalities in an unbiased cohort of patients with FOXP1 syndrome and to document rare complications.

Methods Patients with FOXP1 syndrome were included, mostly diagnosed via whole-exome sequencing for neurodevelopmental delay. A parent-report questionnaire was used to assess medical signs and symptoms, including questions about features rated as most burdensome by patients and their family.

Results Forty individuals were included, 20 females and 20 males. The mean age at assessment was 13.2 years (median 8.5 years; range 2–54 years; ≥18 years n = 7). Seven adults were included. All patients had developmental problems, including cognitive, communication, social-emotional and motor delays. The most prevalent medical signs and symptoms include delayed bladder control, sleeping problems, hypermetropia, strabismus, sacral dimple, undescended testes, abnormal muscle tone and airway infections. The most burdensome complaints for patients with FOXP1 syndrome, as perceived by parents, include intellectual disability, impaired communication, behaviour problems, lack of age-appropriate self-reliance, attention problems and anxiety. According to parents, patients have quite similar reported symptoms, although incontinence, obsessions and a complex sensory profile have a higher ranking.

Conclusion The results of this study may be used to further guide medical management and identify patient priorities for future research targeted on those features of FOXP1 syndrome that most impair quality of life of patients and their families.

  • Inborn Genetic Diseases
  • Genetic Counselling
  • Genetics, Medical
  • Patient Care
  • Phenotype

Data availability statement

Data are available upon reasonable request.

https://doi.org/10.1136/jmg-2023-109537

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    Data availability statement

    Data are available upon reasonable request.

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    Footnotes

    • Twitter @mcri_speechlang

    • Contributors SK was involved in the planning, conduct, reporting, conception and design, acquisition of data or analysis and interpretation of data. FGR, FW, DB, AM, MT, RB and GWES were involved in conception and design, reporting and interpretation of data. JW, TR, JRS, RB and CMPCDP-S were involved in reporting and interpretation of data. SK accepts full responsibility for the work and/or the conduct of the study, had access to the data, and controlled the decision to publish.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.