Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion

Rakonjac, Marijana; Čuturilo, Goran; Stevanović, Milena; Jeličić, Ljiljana; Subotić, Miško; Jovanovic, Ida; Drakulić, Danijela

doi:10.1016/j.ridd.2016.05.006

Cited by 22 publications

(20 citation statements)

References 35 publications

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“…Unlike patients with 22q11.2 deletion syndrome who typically acquire verbal skills at the age of 17 months (Rakonjac et al, ), none of the three patients reported here had acquired any meaningful words. To delineate the linguistic natural history of the patients, we graphically illustrated verbal development (Figure ; Supporting Information Table S1) based on information available from presently reported three patients and 30 previously reported patients with truncating mutations or whole gene deletions of SATB2 (i.e.,33 patients).…”

Section: Discussioncontrasting

confidence: 61%

SATB2‐associated syndrome in patients from Japan: Linguistic profiles

Yamada

Uehara

Suzuki

et al. 2019

American J of Med Genetics Pt A

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Cleft palate can be classified as either syndromic or nonsyndromic. SATB2‐associated syndrome is one example of a syndromic cleft palate that is accompanied by intellectual disability, and various dental anomalies. SATB2‐associated syndrome can be caused by several different molecular mechanisms including intragenic mutations and deletions of SATB2. Here, we report two patients with SATB2 truncating mutations (p.Arg239* and p.Asp702Thrfs*38) and one with a 4.4 megabase deletion including the SATB2 locus. All three patients had cleft palate and other dysmorphic features including macrodontia wide diastema. None of the three patients had acquired any meaningful words at the age of 5 years. In a review of the linguistic natural history of presently reported three patients and 30 previously reported patients, only two patients had attained verbal skills beyond speaking a few words. This degree of delayed speech contrasts with that observed in the prototypic form of syndromic cleft palate, 22q11.2 deletion syndrome. The recognition of SATB2‐associated syndrome prior to palatoplasty would be important for plastic surgeons and the families of patients because precise diagnosis should provide predictive information regarding the future linguistic and intellectual abilities of the patients. Macrodontia with a wide diastema and cleft palate is a helpful and highly suggestive sign for the diagnosis of SATB2‐associated syndrome.

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Section: Discussioncontrasting

confidence: 61%

SATB2‐associated syndrome in patients from Japan: Linguistic profiles

Yamada

Uehara

Suzuki

et al. 2019

American J of Med Genetics Pt A

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“…Prosodic abnormalities have been described (Gorlin & Baylis, 2009), and language delay is commonly reported (Glaser et al, 2002; Niklasson, Rasmussen, Óskarsdóttir, & Gillberg, 2001; Swillen et al, 1997). These segmental, suprasegmental, and language deficits have been associated with reduced speech intelligibility that is more severe and persistent in some children than observed in some speakers with Down syndrome (DS), cleft palate, and other phenotypic overlaps (Baylis, Munson, & Moller, 2008; D'Antonio et al, 2001; Persson, Lohmander, Jönsson, Óskarsdóttir, & Söderpalm, 2003; Rakonjac et al, 2016; Scherer, D'Antonio, & Kalbfleisch, 1999).…”

Section: Speech Deficits In Children With 22qmentioning

confidence: 99%

“…Although research in speakers with 22q has focused on speech disorders and VPD, a few studies have reported motor speech disorders (MSDs) in speakers with 22q, including childhood dysarthria and childhood apraxia of speech (CAS; e.g., Carneol et al, 1999; D'Antonio et al, 2001; Golding-Kushner et al, 1985; Kummer et al, 2007; Mills, Gosling, & Sell, 2006; Persson et al, 2003; Rakonjac et al, 2016; Solot et al, 2000). Solot et al (2000) anecdotally described features of flaccid dysarthria in children with 22q.…”

Section: Speech Deficits In Children With 22qmentioning

confidence: 99%

Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome

Baylis

Shriberg

2019

Am J Speech Lang Pathol

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Purpose Speech sound disorders and velopharyngeal dysfunction are frequent features of 22q11.2 deletion syndrome (22q). We report the first estimate of the prevalence of motor speech disorders (MSDs) in youth with 22q. Method Seventeen children and adolescents with 22q completed an assessment protocol that included a conversational speech sample. Data reduction included phonetic transcription, perceptual speech ratings, prosody-voice coding, and acoustic analyses. Data analyses included 3 motor speech measures and a cross-classification analytic. Prevalence estimates of speech and MSDs in youth with 22q were compared with estimates in speakers with other complex neurodevelopmental disorders: Down syndrome, fragile X syndrome, and galactosemia. Results Results indicated that 58.8% of the participants with 22q met criteria for speech delay, and 82.4% of the participants met criteria for MSDs, including 29.4% with speech motor delay, 29.4% with childhood dysarthria, 11.8% with childhood apraxia of speech, and 11.8% with concurrent childhood dysarthria and childhood apraxia of speech. MSDs were not significantly associated with velopharyngeal dysfunction. Conclusions In summary, 82.4% of the participants with 22q met criteria for 1 of 4 MSDs, predominantly speech motor delay and childhood dysarthria. Cross-validation of the present findings would support viewing MSDs as a core phenotypic feature of 22q.

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“…The final fourth step was testing speech-language, sensorymotor, and social-emotional development of children at the age of three and collecting the data regarding early motor (appearance of the first step) and language development (appearance of the first word) at the age of one year using parental questionnaire (a total of 43 children participated in this step). To assess speech and language development (SLD), sensory-motor development (SMD) and socialemotional development (SED) of three-year-old children included in this study, we used the Scale for Evaluation of Psychophysiological Abilities of Children (SEPAC), which comprises three subscale tests (the test for assessing SLD, the test for assessing SMD, and the test for the assessment of SED) and is used in children aged 0-7 years [12,13,14]. All the data are collected by the method of individual testing.…”

Section: Assessment Of the Early Child Development At The Age Of Threementioning

confidence: 99%

Effect of antenatal maternal anxiety on the reactivity of fetal cerebral circulation to auditory stimulation, and early child development

Vujović¹,

Sovilj²,

Plešinac³

et al. 2019

Srp Arh Celok Lek

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Introduction/Objective Antenatal maternal anxiety (AMA) can have negative impact on a child's preand postnatal development. The aim of the study was to examine the effect of AMA on changes in fetal blood flow through the middle cerebral artery (MCA) after acoustic stimulation, on birth outcome, and on early child development. Methods Forty-three women in the third trimester of pregnancy and their children were enrolled into a longitudinal prospective study. The AMA (state and trait) was assessed using Spielberger's questionnaire. The MCA blood flow was assessed using Doppler ultrasound before and after the defined acoustic stimulus. The data regarding neonatal body weight, Apgar score, first step and word appearance, estimated speech-language (ESLD), sensory-motor (ESMD), and social-emotional (ESED) development at the age of three were collected. Results Fetuses from mothers with high state and trait anxiety had slower reaction time and higher relative pulsatility index after defined auditory stimulation. There are more preterm deliveries, lower scores on ESLD, ESMD, and ESED in mothers with high State-Trait Anxiety Inventory personality trait (STAI-T) compared to low. There is a negative correlation between reaction time, relative pulsatility index, STAI-T and ESLD. Conclusions High levels of antenatal maternal trait anxiety could have a negative effect on both fetal reactivity to sound stimulation and early child development.

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Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion

Cited by 22 publications

References 35 publications

SATB2‐associated syndrome in patients from Japan: Linguistic profiles

SATB2‐associated syndrome in patients from Japan: Linguistic profiles

Estimates of the Prevalence of Speech and Motor Speech Disorders in Youth With 22q11.2 Deletion Syndrome

Effect of antenatal maternal anxiety on the reactivity of fetal cerebral circulation to auditory stimulation, and early child development

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