Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals

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 u...

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Bibliographic Details
Published in:	Journal of medical genetics Vol. 61; no. 4; p. 399
Main Authors:	Koene, Saskia, Ropers, Fabiënne Gwendolin, Wieland, Jannelien, Rybak, Tamara, Wildschut, Floor, Berghuis, Dagmar, Morgan, Angela, Trelles, Maria Pilar, Scheepe, Jeroen Ronald, Bökenkamp, Regina, Peeters-Scholte, Cacha M P C D, Braden, Ruth, Santen, Gijs W E
Format:	Journal Article
Language:	English
Published:	England 01-04-2024
Subjects:	Adolescent Adult Autistic Disorder - genetics Female Forkhead Transcription Factors - genetics Forkhead Transcription Factors - metabolism Humans Intellectual Disability - diagnosis Intellectual Disability - epidemiology Intellectual Disability - genetics Male Phenotype Quality of Life Repressor Proteins - genetics Transcription Factors - genetics Patient Care Phenotype Genetics, Medical Inborn Genetic Diseases Genetic Counselling
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Summary:	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. 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. 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. 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.
ISSN:	1468-6244
DOI:	10.1136/jmg-2023-109537