Clinical phenotype of FOXP1 syndrome : parent-reported medical signs and symptoms in 40 individuals
© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ..
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.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:61 |
|---|---|
| Enthalten in: |
Journal of medical genetics - 61(2024), 4 vom: 21. März, Seite 399-404 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Koene, Saskia [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
FOXP1 protein, human |
|---|
| Anmerkungen: |
Date Completed 25.03.2024 Date Revised 25.03.2024 published: Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1136/jmg-2023-109537 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM366146521 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM366146521 | ||
| 003 | DE-627 | ||
| 005 | 20240325234527.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231227s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1136/jmg-2023-109537 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1346.xml |
| 035 | |a (DE-627)NLM366146521 | ||
| 035 | |a (NLM)38123995 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Koene, Saskia |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Clinical phenotype of FOXP1 syndrome |b parent-reported medical signs and symptoms in 40 individuals |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 25.03.2024 | ||
| 500 | |a Date Revised 25.03.2024 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ. | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Genetic Counselling | |
| 650 | 4 | |a Genetics, Medical | |
| 650 | 4 | |a Inborn Genetic Diseases | |
| 650 | 4 | |a Patient Care | |
| 650 | 4 | |a Phenotype | |
| 650 | 7 | |a Repressor Proteins |2 NLM | |
| 650 | 7 | |a Transcription Factors |2 NLM | |
| 650 | 7 | |a Forkhead Transcription Factors |2 NLM | |
| 650 | 7 | |a FOXP1 protein, human |2 NLM | |
| 700 | 1 | |a Ropers, Fabiënne Gwendolin |e verfasserin |4 aut | |
| 700 | 1 | |a Wieland, Jannelien |e verfasserin |4 aut | |
| 700 | 1 | |a Rybak, Tamara |e verfasserin |4 aut | |
| 700 | 1 | |a Wildschut, Floor |e verfasserin |4 aut | |
| 700 | 1 | |a Berghuis, Dagmar |e verfasserin |4 aut | |
| 700 | 1 | |a Morgan, Angela |e verfasserin |4 aut | |
| 700 | 1 | |a Trelles, Maria Pilar |e verfasserin |4 aut | |
| 700 | 1 | |a Scheepe, Jeroen Ronald |e verfasserin |4 aut | |
| 700 | 1 | |a Bökenkamp, Regina |e verfasserin |4 aut | |
| 700 | 1 | |a Peeters-Scholte, Cacha M P C D |e verfasserin |4 aut | |
| 700 | 1 | |a Braden, Ruth |e verfasserin |4 aut | |
| 700 | 1 | |a Santen, Gijs W E |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of medical genetics |d 1964 |g 61(2024), 4 vom: 21. März, Seite 399-404 |w (DE-627)NLM000228656 |x 1468-6244 |7 nnns |
| 773 | 1 | 8 | |g volume:61 |g year:2024 |g number:4 |g day:21 |g month:03 |g pages:399-404 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1136/jmg-2023-109537 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 61 |j 2024 |e 4 |b 21 |c 03 |h 399-404 | ||