Cognitive, Behavioral, and Sensory Profile of Pallister–Killian Syndrome: A Prospective Study of 22 Individuals

Fetta, Anna; Soliani, Luca; Trevisan, Alessia; Pugliano, Rosa; Ricci, Emilia; Pisa, Veronica Di; Pignataro, Verónica; Angotti, Marida; Rocca, Alessandro; Salce, Bianca; Mancardi, Maria Margherita; Giordano, Lucio; Pruna, Dario; Parmeggiani, Antonia; Cordelli, Duccio Maria

doi:10.3390/genes13020356

Cited by 5 publications

(6 citation statements)

References 47 publications

(69 reference statements)

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“…Genetic conditions linked to sleep disturbances include people with Down's Syndrome with and without obstructive sleep apnoea (Al‐Khudhairy et al, 2019; Bassell et al, 2015; Chawla, Howard, et al, 2021; Esbensen et al, 2018; Heubi et al, 2021; Stores, 2019; Worley et al, 2015), Tuberous sclerosis complex (Trickett et al, 2018), Mowat–Wilson Syndrome (Di Pisa et al, 2019; Evans et al, 2016), Cornelia de Lange Syndrome (Zambrelli et al, 2016), Angelman syndrome (den Bakker et al, 2018; den Bestern et al, 2021; Levin et al, 2022; Pearson et al, 2018; Trickett et al, 2018), Smith‐Magenis syndrome (Mullegama et al, 2015; Rive Le Gouard et al, 2021; Smith et al, 2019; Trickett et al, 2020), Fragile X syndrome (Budimirovic et al, 2022; Mullegama et al, 2015). In addition to rare conditions which are linked to sleep disturbances such as Christianson Syndrome (Gruber et al, 2022), Dup15q Syndrome (Barstein et al, 2021), Pallister‐Killian Syndrome (Fetta et al, 2022), Phelan‐McDermid Syndrome and SYNGAP1‐ID (Smith‐Hicks et al, 2021), MBD5‐associated neurodevelopmental disorder (Gandhi et al, 2021), Arboleda‐Tham syndrome (Smith & Harris, 2021), Bosch‐Boonstra‐Schaaf optic atrophy syndrome (Rech et al, 2020) and emerging genetic variants including microdeletion syndrome at 2q22.1q22.3 and de novo DDX3X variants (Chen et al, 2020; Verhoeven et al, 2020). This shows that a wide array of specific intellectual disability syndromes are associated with sleep problems, although variation from night to night and within syndrome groupings is found (Trickett et al, 2019).…”

Section: Resultsmentioning

confidence: 99%

Behavioural sleep problems in children and adults with intellectual disabilities: An integrative literature review

Harper

McAnelly

Walshe

et al. 2023

Research Intellect Disabil

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Background People with intellectual disabilities are more likely to experience sleep problems, which can affect quality of life, physical health, mental health and well‐being. Methods An integrative literature review was conducted to investigate what is known about behavioural sleep disturbances in people with an intellectual disability. The search used the following databases: Scopus, PsycInfo and Cinahl, to find papers published since 2015. Results Within intellectual disability research, sleep appears as a common issue due to its high prevalence, negative relationships with an individual's physical and mental health, their quality of life, and impact of sleep problems on family or carers. The growing evidence base appears to support the use of behavioural, lifestyle and pharmacological interventions to improve sleep in people with an intellectual disability. Conclusion A wide array of literature provides evidence that people with intellectual disabilities are affected by and need support with their sleep.

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Section: Resultsmentioning

confidence: 99%

Behavioural sleep problems in children and adults with intellectual disabilities: An integrative literature review

Harper

McAnelly

Walshe

et al. 2023

Research Intellect Disabil

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“…As shown in Table 3 , most of the relational studies used a version of the BPI [ 29 , 31 , 122 , 123 , 124 , 125 , 126 , 127 , 128 , 129 , 130 , 131 , 132 , 133 , 134 , 135 , 136 , 137 , 138 , 139 , 140 , 141 , 142 ], the ABC [ 94 , 95 , 96 , 97 , 98 , 99 , 100 , 101 ], or the ABC-C [ 33 , 105 , 106 , 107 , 108 , 109 , 110 , 111 ]. The other instruments used for these studies were ASD-BPA [ 115 , 116 , 117 , 118 , 119 ], CCB [ 30 , 147 , 148 , 149 , 150 , 151 ], MOAS [ 153 , 154 , …”

Section: Resultsmentioning

confidence: 99%

“…Finally, in the case of Pallister–Killian syndrome, one study suggested that stereotypic, aggressive, and self-injurious behaviors were frequent, but that these were mediated by other variables such as the level of adaptive behavior, the sensory profile, and/or sleep impairment [ 142 ].…”

Section: Resultsmentioning

confidence: 99%

“…The instruments most commonly used to establish this relationship were the ABC, ABC-C, some versions of the BPI-01, or a combination of different instruments. Age [ 36 , 98 , 106 , 108 , 151 ]; the level of adaptive behavior, disability, and language [ 29 , 30 , 68 , 95 , 97 , 99 , 100 , 106 , 107 , 118 , 124 , 129 , 135 , 138 , 145 , 158 ]; the presence of autism spectrum disorder [ 32 , 95 , 99 , 100 , 103 , 107 , 115 , 116 , 117 , 119 , 120 , 126 , 129 , 141 , 143 , 145 ]; the type of diagnosis linked to a genetic syndrome [ 101 , 105 , 109 , 111 , 122 , 142 , 145 , 146 , 156 , 158 ]; psychiatric disorders associated with the severity of the disability [ 29 , 96 , 107 , 113 , 125 ,…”

Section: Discussionmentioning

confidence: 99%

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Assessment of Challenging Behavior Exhibited by People with Intellectual and Developmental Disabilities: A Systematic Review

REYES-MARTÍN

Simó-Pinatella

Font-Roura³

2022

IJERPH

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The assessment of challenging behavior exhibited by people with intellectual and developmental disabilities is essential for the planning of prevention and intervention programs. This review aimed to identify and analyze the standardized instruments that exclusively focus on the assessment of challenging behavior. We identified and organized 141 articles into four categories: original instrument studies, validation studies, relational studies, and intervention studies. The results identified 24 instruments that generally show high-quality psychometric properties and other utilities beyond the observation of the presence of challenging behavior and diagnostic categorization. Age, level of adaptive behavior, disability, presence of autism spectrum disorder, and medication are some of the variables that were found to be possibly related to the occurrence of challenging behavior. Additionally, the results suggest that interventions focused on supporting positive behavior or providing training on behavior to professionals and caregivers significantly reduced the occurrence of these behaviors. Instruments that help us to understand and measure the challenging behavior exhibited by people with intellectual and developmental disabilities are essential for the design of effective evaluation and intervention protocols.

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“…SSP1 questionnaires were filled out by the special education teachers who followed each child individually in the normal school context, according to the Italian School model; this choice also ensured greater objectivity and precision for the data collection. Despite the validation reported by the authors concerning children up to 10 years of age, we decided to administer SSP1 to school-aged subjects until 18 years of age because of their ID level, as already used by other authors [ 42 , 43 , 44 , 45 , 46 ].…”

Section: Methodsmentioning

confidence: 99%

Sensory Profile of Children and Adolescents with Autism Spectrum Disorder and Tip-Toe Behavior: Results of an Observational Pilot Study

Valagussa

Purpura

Nale³

et al. 2022

Children

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Atypical sensory processing is frequently reported in persons with autism spectrum disorders (ASD), and it is one of the described diagnostic criteria for ASD. There is also mounting literature supporting the presence of motor impairments in individuals with ASD. Among these motor signs, tip-toe behavior (TTB) is a possible clinical finding, but its etiology is not clearly understood. It is suggested that TTB in ASD could be a sign of a sensory modulation impairment, but evidence is lacking and controversial. The main aim of this pilot study is to explore sensory features in a sample (4 females; 28 males) of children and adolescents with ASD (age range: 7–18). All participants also presented Intellectual Disability. Participants were divided in two groups, matched for age and gender, on the basis of the presence or absence of TTB (16 ASD TTB group vs. 16 ASD NO-TTB group) and then evaluated by using the Short Sensory Profile. We found that both ASD groups tend to significantly present sensory-related behavioral symptoms, but ASD TTB individuals more frequently showed the specific pattern of “under responsive/seeks sensation” than ASD NO-TTB individuals. These preliminary findings support that sensory-motor features might be taken into consideration when rehabilitation for TTB in children and adolescents with ASD is necessary.

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Cognitive, Behavioral, and Sensory Profile of Pallister–Killian Syndrome: A Prospective Study of 22 Individuals

Cited by 5 publications

References 47 publications

Behavioural sleep problems in children and adults with intellectual disabilities: An integrative literature review

Behavioural sleep problems in children and adults with intellectual disabilities: An integrative literature review

Assessment of Challenging Behavior Exhibited by People with Intellectual and Developmental Disabilities: A Systematic Review

Sensory Profile of Children and Adolescents with Autism Spectrum Disorder and Tip-Toe Behavior: Results of an Observational Pilot Study

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