The adaptive functioning profile of Pitt-Hopkins syndrome

Effie Pearson; Alice Watkins; Chris Oliver; Amna Karim; Jill Clayton-smith; Alice Welham

doi:10.1016/j.ejmg.2021.104279

The adaptive functioning profile of Pitt-Hopkins syndrome

Effie Pearson^*, Alice Watkins, Chris Oliver, Amna Karim, Jill Clayton-smith, Alice Welham

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

Abstract

Background:
There are few cohort studies describing the adaptive functioning profile for Pitt-Hopkins syndrome (PTHS). In this study we examine the adaptive functioning profile for PTHS and compare it to Angelman syndrome (AS).

Method:
Caregivers of 14 individuals with PTHS, 33 with deletion AS and 23 with non-deletion AS, completed the Vineland Adaptive Behavior Scales-II.

Results:
The profile of adaptive functioning in PTHS was characterised by strengths in socialisation, followed by motor skills, communication then daily living skills. The PTHS group scored significantly lower than the non-deletion AS group on all domains except socialisation and significantly lower than the deletion AS group, for motor skills only.

Conclusions:
An uneven adaptive behavior profile for individuals with PTHS mirrors that of AS, with implications for assessment and intervention.

Original language	English
Article number	104279
Journal	European Journal of Medical Genetics
Volume	64
Issue number	9
Early online date	24 Jun 2021
DOIs	https://doi.org/10.1016/j.ejmg.2021.104279
Publication status	Published - Sept 2021

Bibliographical note

© 2021, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/.

Funding: This research was funded by Cerebra.

Keywords

Adaptive functioning
Angelman syndrome
Behavioral phenotype
Intellectual disability
Pitt-Hopkins syndrome
Vineland adaptive behavior scales

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10.1016/j.ejmg.2021.104279

The adaptive functioning profile of Pitt-Hopkins syndrome
© 2021, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/.
Accepted author manuscript, 1.06 MBLicence: CC BY-NC-ND 3.0

Cite this

@article{bbc38f11d7b644a7b8151f761c173d5b,

title = "The adaptive functioning profile of Pitt-Hopkins syndrome",

abstract = "Background: There are few cohort studies describing the adaptive functioning profile for Pitt-Hopkins syndrome (PTHS). In this study we examine the adaptive functioning profile for PTHS and compare it to Angelman syndrome (AS).Method: Caregivers of 14 individuals with PTHS, 33 with deletion AS and 23 with non-deletion AS, completed the Vineland Adaptive Behavior Scales-II.Results: The profile of adaptive functioning in PTHS was characterised by strengths in socialisation, followed by motor skills, communication then daily living skills. The PTHS group scored significantly lower than the non-deletion AS group on all domains except socialisation and significantly lower than the deletion AS group, for motor skills only.Conclusions: An uneven adaptive behavior profile for individuals with PTHS mirrors that of AS, with implications for assessment and intervention.",

keywords = "Adaptive functioning, Angelman syndrome, Behavioral phenotype, Intellectual disability, Pitt-Hopkins syndrome, Vineland adaptive behavior scales",

author = "Effie Pearson and Alice Watkins and Chris Oliver and Amna Karim and Jill Clayton-smith and Alice Welham",

note = "{\textcopyright} 2021, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/. Funding: This research was funded by Cerebra.",

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doi = "10.1016/j.ejmg.2021.104279",

language = "English",

volume = "64",

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T1 - The adaptive functioning profile of Pitt-Hopkins syndrome

AU - Pearson, Effie

AU - Watkins, Alice

AU - Oliver, Chris

AU - Karim, Amna

AU - Clayton-smith, Jill

AU - Welham, Alice

N1 - © 2021, Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/. Funding: This research was funded by Cerebra.

PY - 2021/9

Y1 - 2021/9

N2 - Background: There are few cohort studies describing the adaptive functioning profile for Pitt-Hopkins syndrome (PTHS). In this study we examine the adaptive functioning profile for PTHS and compare it to Angelman syndrome (AS).Method: Caregivers of 14 individuals with PTHS, 33 with deletion AS and 23 with non-deletion AS, completed the Vineland Adaptive Behavior Scales-II.Results: The profile of adaptive functioning in PTHS was characterised by strengths in socialisation, followed by motor skills, communication then daily living skills. The PTHS group scored significantly lower than the non-deletion AS group on all domains except socialisation and significantly lower than the deletion AS group, for motor skills only.Conclusions: An uneven adaptive behavior profile for individuals with PTHS mirrors that of AS, with implications for assessment and intervention.

AB - Background: There are few cohort studies describing the adaptive functioning profile for Pitt-Hopkins syndrome (PTHS). In this study we examine the adaptive functioning profile for PTHS and compare it to Angelman syndrome (AS).Method: Caregivers of 14 individuals with PTHS, 33 with deletion AS and 23 with non-deletion AS, completed the Vineland Adaptive Behavior Scales-II.Results: The profile of adaptive functioning in PTHS was characterised by strengths in socialisation, followed by motor skills, communication then daily living skills. The PTHS group scored significantly lower than the non-deletion AS group on all domains except socialisation and significantly lower than the deletion AS group, for motor skills only.Conclusions: An uneven adaptive behavior profile for individuals with PTHS mirrors that of AS, with implications for assessment and intervention.

KW - Adaptive functioning

KW - Angelman syndrome

KW - Behavioral phenotype

KW - Intellectual disability

KW - Pitt-Hopkins syndrome

KW - Vineland adaptive behavior scales

UR - https://linkinghub.elsevier.com/retrieve/pii/S1769721221001452

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DO - 10.1016/j.ejmg.2021.104279

M3 - Article

SN - 1769-7212

VL - 64

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 9

M1 - 104279

ER -

The adaptive functioning profile of Pitt-Hopkins syndrome

Abstract

Bibliographical note

Keywords

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