Asymmetric Crying Facies in the 22q11.2 Deletion Syndrome

Pasick, Christina; McDonald‐McGinn, Donna M.; Simbolon, Christine; Low, David W.; Zackai, Elaine H.; Jackson, Oksana A.

doi:10.1177/0009922813506606

Cited by 30 publications

(22 citation statements)

References 32 publications

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“…These features are variable and less frequently identified in non-Caucasians (McDonald-McGinn et al, 2015). Reduced facial affect (Gerdes et al, 1999) and/or animation are often seen as well as asymmetric crying facies (Pasick et al, 2013). For photographic examples of dysmorphic facial features in 22qDS across age and ethnicity, see McDonald-McGinn et al, 2015.…”

Section: Overview Of 22qdsmentioning

confidence: 99%

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Solot

Sell

Mayne

et al. 2019

Am J Speech Lang Pathol

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Purpose Speech and language disorders are hallmark features of 22q11.2 deletion syndrome (22qDS). Learning disabilities, cognitive deficits, palate abnormalities, velopharyngeal dysfunction, behavioral differences, and various medical and psychiatric conditions are also major features of this syndrome. The goal of this document is to summarize the state of the art of current clinical and scientific knowledge regarding 22qDS for speech-language pathologists (SLPs) and provide recommendations for clinical management. Method Best practices for management of individuals with 22qDS were developed by consensus of an expert international group of SLPs and researchers with expertise in 22qDS. These care recommendations are based on the authors' research, clinical experience, and literature review. Results This document describes the features of 22qDS as well as evaluation procedures, treatment protocols, and associated management recommendations for SLPs for the often complex communication disorders present in this population. Conclusion Early diagnosis and appropriate management of speech-language disorders in 22qDS is essential to optimize outcomes and to minimize the long-term effects of communication impairments. Knowledge of this diagnosis also allows anticipatory care and guidance regarding associated features for families, health care, and educational professionals.

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Section: Overview Of 22qdsmentioning

confidence: 99%

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Solot

Sell

Mayne

et al. 2019

Am J Speech Lang Pathol

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“…Movement abnormalities are common in children and adolescents with 22q11.2DS. These include hypotonia in infancy, delayed gross‐motor milestones [Swillen et al, ], specific motor deficits in axial stability [Roizen et al, ], deficits in psychomotor speed [Howley et al, ], problems with coordination and balance [van Aken et al, ], asymmetric crying face [Pasick et al, ], seizures, and tremor or tetany as a result of hypocalcemia [Weinzimer, ].…”

Section: Introductionmentioning

confidence: 99%

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome

Boot¹,

Butcher

Amelsvoort

et al. 2015

American J of Med Genetics Pt A

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Movement abnormalities are frequently reported in children with 22q11.2 deletion syndrome (22q11.2DS), but knowledge in this area is scarce in the increasing adult population. We report on five individuals illustrative of movement disorders and other motor abnormalities in adults with 22q11.2DS. In addition to an increased susceptibility to neuropsychiatric disorders, seizures, and early-onset Parkinson disease, the underlying brain dysfunction associated with 22q11.2DS may give rise to an increased vulnerability to multiple movement abnormalities, including those influenced by medications. Movement abnormalities may also be secondary to treatable endocrine diseases and congenital musculoskeletal abnormalities. We propose that movement abnormalities may be common in adults with 22q11.2DS and discuss the implications and challenges important to clinical practice.

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“…5 In a retrospective review, a 14% incidence of ACF was reported in patients with 22q11DS, significantly higher than the incidence in the general population (0.6%). 6 The presence of concurrent cardiovascular anomalies and palatal/ velopharyngeal abnormalities among patients with both the 22q11.2DS, and ACF did not differ significantly from that in the population of all patients with 22q11.2DS. No pathogenic CNVs were detected using array-CGH in our patient.…”

Section: Discussionmentioning

confidence: 77%

Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face

2019

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Asymmetric crying face (ACF) is a minor congenital anomaly that is often associated with a high rate of major malformations and may be considered an indication of a syndromic clinical presentation. Here, we report a 21-month-old male presenting with left- sided ACF, thenar hypoplasia, and esophageal atresia. Ultrasonographic images of the volar surface of the left hand evidenced the absence of muscle tissue around the thenar prominence at the level of the first metacarpal bone. No pathogenic copy number variation was detected on array-comparative genomic hybridization analysis (CGH). The association of esophageal atresia, thenar hypoplasia, and ACF has not been reported before. We discuss the possibility of a distinct association or of a sequence of anomalies associated with ACF.

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Asymmetric Crying Facies in the 22q11.2 Deletion Syndrome

Abstract: We report a 14% incidence of ACF in patients with a 22q11.2 deletion, significantly higher than in the general population. We suggest, therefore, that newborns with ACF be referred for further screening for the 22q11.2 deletion syndrome.

Cited by 30 publications

References 32 publications

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Speech-Language Disorders in 22q11.2 Deletion Syndrome: Best Practices for Diagnosis and Management

Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome

Esophageal Atresia and Thenar Hypoplasia Associated with Asymmetric Crying Face

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