22q11 deletion syndrome (22qDS) has recently been proposed for addition to the newborn screening panel in Wisconsin and it seems likely that it may soon be considered in other states as well. Input from patients with 22qDS and their family was gathered from 21 phone interviews. Cardiac, palate, hypocalcemia, and multiple anomalies were common reasons for involved patients to be diagnosed, though age at diagnosis ranged from birth to adulthood. Many commented on their struggles with 22qDS, including worries about the future and the patient's independence. In general, respondents favored newborn screening for 22qDS because it would help prevent some medical problems, increase access to services, explain existing problems, and identify mild cases. However, a minority expressed reservations, including concerns that it would disrupt bonding, could be too costly, and would not be useful for mild cases.

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10897-010-9306-0DOI Listing

Publication Analysis

Top Keywords

22q11 deletion
8
deletion syndrome
8
newborn screening
8
mild cases
8
patient family
4
family experiences
4
experiences opinions
4
opinions adding
4
adding 22q11
4
syndrome newborn
4

Similar Publications

Sleep difficulties related to psychopathology and neurocognition in people with 22q11.2 deletion syndrome.

Psychiatry Res

December 2024

Department of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Brain Behavior Laboratory, Neuropsychiatry Section, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

The 22q11.2 Deletion Syndrome (22q11.2DS) is a multisystem genetic disorder with prominent sleep disturbances, neuropsychiatric conditions and neurocognitive challenges.

View Article and Find Full Text PDF

CRKL Gene Deletion in Familial Zinner (OSVIRA) and OHVIRA Syndromes.

Pediatrics

December 2024

Department of Paediatric Surgery & Urology, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, United Kingdom.

We present the first description of a family in which 2 siblings show alternative expression of CRKL gene deletion as the phenotypes of Zinner (OSVIRA, obstructed seminal vesicle and ipsilateral renal agenesis) and OHVIRA (obstructed hemivagina with an ipsilateral renal anomaly) syndromes. The male infant with Zinner syndrome and his sister aged 5 years with OHVIRA syndrome both have a paternally inherited 703-kb deletion at chromosome 22q11.21 that includes CRKL.

View Article and Find Full Text PDF

Individuals with orofacial clefts (OFCs) may be at an increased risk of developing autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). This systematic review provides a summary of the most recent data regarding the prevalence of ASD and ADHD in the OFC population and compares this to the general paediatric population. Multiple databases were searched including PubMed/Medline and Embase in July 2024, following the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines and was registered in PROSPERO (CRD42024565219).

View Article and Find Full Text PDF

22q11.2 deletion syndrome (MIM: 192430/188400, ORPHA: 567) is the most common chromosomal microdeletion disorder, caused by a hemizygous microdeletion of 2.5 million base pairs on chromosome 22.

View Article and Find Full Text PDF

Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!