The Dalglish Family 22q Clinic

Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot
Bassett AS, Reuter MS, Malecki S, Silversides C, Oechslin E.
CJC Pediatr Congenit Heart Dis. 2023 Oct 10;2(6Part A):426-439.
doi: 10.1016/j.cjcpc.2023.10.002.

TOF is an important congenital heart disease that affects many individuals with 22q11.2 deletion syndrome (22q) and requires life-long follow up. Many people with ToF who have 22q or another genetic change that causes ToF (and other health issues) have not yet had clinical testing to identify the genetic change. This paper helps cardiologists (heart specialists) understand how clinical genetic testing can help people with TOF.

For more information about the heart and ToF, please see the Heart Series in the Health Conditions Explained section of the website of the International 22q11.2 Foundation:

• The Heart and Normal Blood Flow
• Tetralogy of Fallot (ToF)

Polygenic risk for triglyceride levels in the presence of a high impact rare variant
Ying S, Heung T, Thiruvahindrapuram B, Engchuan W, Yin Y, Blagojevic C, Zhang Z, Hegele RA, Yuen RKC, Bassett AS.
BMC Med Genomics. 2023 Nov 8;16(1):281.
doi: 10.1186/s12920-023-01717-2.

In our 2022 publication, we reported that having a 22q11.2 deletion and being male increase the risk of having high levels of triglycerides (a condition called hypertriglyceridemia). Chromosome 22q11.2 does not contain any genes that are directly related to hypertriglyceridemia. So, what makes this condition to be more likely in adults with 22q11.2DS?

In this study, our team checked if certain common genetic variations outside of the chromosome 22q11.2 region can predict the risk of having higher levels of triglycerides. In 157 adults with 22q11.2DS and detailed genetic data, we found that these common variants, together with obesity and being male, could predict the risk of high triglyceride levels quite well.

Of course, lipid levels (including triglycerides) can easily be measured in a blood test. In the future, however, children found to have the variants that increase their risk of hypertriglyceridemia may be encouraged to adopt healthy diets and active lifestyles early on in life to lower the risk.

Adult-onset obstructive sleep apnea and pediatric pharyngoplasty in 22q11.2 deletion syndrome
Cancelliere S, Heung T, Fischbach S, Klaiman P, Bassett, AS
Sleep Medicine Volume 104, Pages 49-55, 2023
DOI: 10.1016/j.sleep.2023.02.010

Obstructive sleep apnea (OSA), or upper airway blockage during sleep, is a fairly common sleep problem. It happens when muscles in the throat become too relaxed during sleep and prevent proper breathing. The brain is starved of oxygen, so the person wakes up every once in a while to breathe again. This leads to very broken sleep and tiredness during the day. This condition can affect the way the brain and heart work, and the person may have mood changes. OSA is a treatable condition.

In a pioneering study, our team found that OSA was quite common in adults with 22q. At an average age of only 32 years, about 1 in every 10 adults had OSA. Of those who had had a sleep study, over half were found to have OSA.

All of the usual risks for OSA - such as obesity, older age, asthma, and male sex - were also risk factors in 22q. However, a new finding was that having had certain types of surgery of the palate may also add to the risk of adult-onset OSA in 22q. The palate is the roof of the mouth, and it separates the mouth from the nose. Many children with 22q have palate and speech problems, and surgery improves the way their palate works and make their words easier to understand. It appears that in some individuals this helpful childhood surgery may increase the risk of OSA in adult years. We found this was the case even when taking into account the effects of other risk factors. Next, we want to find out why most people with 22q who have palate surgery do not develop OSA.

Sleep apnea is treatable with continuous positive airway pressure (CPAP). In fact, our team found that the majority of adults with 22q who were prescribed CPAP were able to use this treatment in the long term. This helped to improve energy and mood, and often helped people lose weight, too. If you think you may have OSA, please check with your doctor to see if you need a sleep study.

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS.
Genet Med. 25(3): 100344, 2023.
DOI: 10.1016/j.gim.2022.11.012.

This set of clinical practice guidelines are developed for the care of individuals 18 years and older, covering life from the transition into adulthood all the way to the elderly age range. The emphasis is on periodic assessments to uncover and manage conditions that are later-onset or previously undetected.

Early diagnosis and treatment are important, and standard treatment strategies apply for each condition.. Healthcare providers from different specialties need to provide coordinated care and tailor the management to suit the individual, taking into account coexisting issues, intellectual disabilities, learning disabilities, mental health problems, and the changing nature of 22q11.2DS over time. In many cases, family members and caregivers continue to be an essential part of the care team.

Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome
Óskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM.
Genet Med. 25(3): 100338, 2023
DOI: 10.1016/j.gim.2022.11.006.

This set of clinical practice guidelines focuses on the care of individuals from birth to 18 years of age. The emphasis is on periodic assessments and family-centered care.

Early diagnosis and treatment as well as preventive management are strongly recommended as they optimize health, functioning, and quality of life. Healthcare providers need to have basic knowledge about the variable, multi-system, and changing nature of 22q11.2DS. Specialists from various disciplines need to provide coordinated care and tailor the treatment to suit the child. Family members and caregivers are an essential part of the care team and benefit from information and support.

Prenatal screening and diagnostic considerations for 22q11.2 microdeletions
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM.
Genes (Basel). 14(1):160, 2023
DOI: 10.3390/genes14010160.

Many babies with conditions associated with 22q11.2DS require urgent medical attention at birth or soon afterwards. Early diagnosis can help provide the best after-birth care, which is especially important for newborns who have critical heart defects, but can also help those with more subtle health issues avoid a lengthy search for a definitive answer.

This article provides prenatal guidance for: (1) families with no history of 22q11.2DS; (2) prospective parents who have 22q11.2DS themselves; and (3) unaffected couples who already have a child with 22q11.2DS. There is discussion about methods of obtaining samples for prenatal genetic screening and testing, as well as physical features that may be seen on imaging. There is explanation about what each testing method can and cannot detect, and the importance of genetic counselling.

Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia
Wen J, Trost B, Engchuan W, Halvorsen M, Pallotto LM, Mitina A, Ancalade N, Farrell M, Backstrom I, Guo K, Pellecchia G, Thiruvahindrapuram B, Giusti-Rodriguez P, Rosen JD, Li Y, Won H, Magnusson PKE, Gyllensten U, Bassett AS, Hultman CM, Sullivan PF, Yuen RKC, Szatkiewicz JP.
Mol Psychiatry. 2023 Jan;28(1):475-482.
doi: 10.1038/s41380-022-01857-4

Genome-wide tandem repeat expansions contribute to schizophrenia risk.
Mojarad BA, Engchuan W, Trost B, Backstrom I, Yin Y, Thiruvahindrapuram B, Pallotto L, Mitina A, Khan M, Pellecchia G, Haque B, Guo K, Heung T, Costain G, Scherer SW, Marshall CR, Pearson CE, Bassett AS, Yuen RKC. (ASB and RKCY are co-senior authors)
Molecular Psychiatry. Immediate Communication, (pages 1-7) e-published 12 May 2022
doi: 10.1038/s41380-022-01575-x

Schizophrenia is a serious but treatable illness that affects about 1 every 100 people in the general population, and about 1 in every 4 to 5 individuals with 22q11.2 deletion syndrome (22q11.2DS). The illness involves major changes in thinking (e.g., being out of touch with reality), emotional state, and a decrease in the ability to function (e.g., at work or school, with other people, with self-care). Researchers are trying to learn more about the many genetic factors that affect the risk of developing this illness in order to further improve treatments.

Tandem repeats are a type of genetic sequence where there are stretches of repeated “letters” of DNA. Sometimes these repeats can get longer when they are passed from one generation to the next. As a repeat sequence expands, it may change a gene’s function and cause or increase the risk for developing an illness. This is a known mechanism for several brain diseases.

In two studies – the first Canadian, and the second international – our research group analyzed the DNA of adults with and without schizophrenia. The results show that individuals with schizophrenia have longer or expanded tandem repeats that are rarely found in those without this illness. The genes that are affected by these expansions are involved in communication between nerve cells in the brain. These findings show for the first time that the expansion of rare tandem repeats may be part of the genetic causes of schizophrenia in the general population. Next, we plan to study this in individuals with 22q11.2DS.

Hypertriglyceridemia in young adults with a 22q11.2 microdeletion.
Blagojevic C, Heung T, Malecki S, Ying S, Cancelliere S, Hegele RA, Bassett AS.
European Journal of Endocrinology 187:91-99, 2022
doi: 10.1530/EJE-21-1104

• Triglycerides are a type of lipid (fat). Your body stores and releases energy as triglycerides in fat cells.
• Hypertriglyceridemia means having a triglyceride level in the blood that is too high.
• Hypertriglyceridemia increases the risk of:
  • Obesity
  • Diabetes
  • Heart disease
• Our team performed a study of 7,060 non-diabetic Canadian adults to see what factors could predict hypertriglyceridemia.
  • Age range: 17 to 69 years old
  • 267 of the 7,060 adults have 22q
• Main findings:
  • Predictors of hypertriglyceridemia:
    • 22q11.2 deletion
    • Being male
    • Certain ethnic groups
    • Older age
  • NOT a predictor of hypertriglyceridemia:
    • Use of antipsychotic medication
  • 75% of the individuals with 22q who have hypertriglyceridemia are under 40 years of age.

The 22q11.2 deletion may be a risk factor for a high triglyceride level. Nevertheless, we can lower the triglyceride level with exercise / activity, and with eating and drinking fewer sugars & simple starches. Here’s to healthy eating!

Adult height, 22q11.2 deletion extent, and short stature in 22q11.2 deletion syndrome.
Heung T, Conroy B, Malecki S, Ha J, Boot E, Corral M, Bassett AS
Genes 13:2038 (pages 1-8), 2022
doi: 10.3390/genes13112038

• Research questions
  • How tall are adults with 22q11.2DS compared to those in the general population?
  • Are there features that might predict short stature in 22q11.2DS?
• Study population
  • 397 adults with 22q11.2DS
  • Confirmed 22q11.2 deletion
• Results
  • Adult height varied from person to person. Adults with 22q11.2DS are a bit shorter on average than those in the general population.
  • Short stature (shorter than 97% of the general population):
    • Was found in about 1 in every 5 adults with 22q11.2DS
      • About 7 times more common than in the general population
    • May be more common in adults:
      • With more severe intellectual disabilities
      • Born with more severe heart disease
    • May be less common in adults with a smaller 22q11.2 deletion

Reproductive outcomes in adults with 22q11.2 deletion syndrome.
Palmer LD, McManus Z, Heung T, McAlpine G, Blagojevic C, Corral M, Bassett AS
[LDP, ZM, and TH contributed equally to this work]
Genes 13:2126 (pages 1-9), 2022
doi: 10.3390/genes13112126

Our research team studied the history of pregnancies in individuals with 22q, none with severe intellectual disability. There were a total of 156 pregnancies for 63 adults (15 male, 48 female), with 157 pregnancy outcomes because one pregnancy involved twins.

Pregnancy Outcomes:

• 94 (60.3%) live births
• 34 (21.2%) miscarriages
• 22 (14.1%) terminations
• 7 (4.5%) stillbirths

Main Findings:

• Pregnancy loss is an important health issue for adults with 22q11.2DS, and far more common compared to the general population.
• For a mother with 22q and severe heart disease, the chance of pregnancy loss may be greater.

Having supports in place before, during, and after pregnancy is essential. Please call our Clinic if you have any questions related to reproductive health and/or family planning considerations.

Schizophrenia Risk Mediated by microRNA Target Genes Overlapped by Genome-Wide Rare Copy Number Variation in 22q11.2 Deletion Syndrome
Ying S, Heung T, Zhang Z, Yuen RKC, Bassett AS
Front Genet 13:812183, 2022.
doi: 10.3389/fgene.2022.812183.

Approximately 1 in 4 individuals who carry a 22q11.2 deletion develop schizophrenia. In this study, we proposed that the increased risk and variable expressivity associated with the deletion may be driven by miRNA dysregulation acting together with additional genome-wide rare copy number variations. Results demonstrate convergence of this mechanism with cellular pathways implicated by previous schizophrenia genetic studies. This study helps explain the vastly increased risk for schizophrenia associated with the 22q11.2 deletion and reveals insights that may be generalizable to schizophrenia in the general population.

Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening [Full text]
Blagojevic C, Heung T, Theriault M, Van L, Tomita-Mitchell A, Chakraborty P, Kernohan K, Bulman DE, Bassett AS
CMAJ Open, 2021, 9 (3) E802-E809
doi: 10.9778/cmajo.20200294

In this study, our team screened for 22q deletions in just over 30,000 babies born in Ontario between January 2017 and September 2018, in order to determine the live birth prevalence of 22q. We found 14 newborns with confirmed 22q deletions in the sample, which corresponds to an estimated live birth prevalence of 1 in 2148 live births. To put this number into perspective, cystic fibrosis and severe combined immunodeficiency (two of the genetic conditions that are screened for in Ontario’s existing Newborn Screening program) in fact have lower prevalence rates than that of 22q. We also found that the babies with 22q likely to have younger mothers, were smaller in size for their gestational age, and had lower TREC levels, which can be a marker for immunodeficiency. These results support the importance of early 22q diagnosis (either prenatally or in infancy through newborn screening), which would allow for earlier screening and management of features associated with 22q.

Sexual knowledge and behaviour in 22q11.2 deletion syndrome, a complex care condition
Palmer LD, Heung T, Corral M, Boot E, Brooks SG, Bassett AS
Journal of Applied Research in Intellectual Disabilities (pages 1–10), e-published 21 July 2021 ahead of print
doi: 10.1111/jar.12927

There is limited information about sexual knowledge and behaviours in adults with complex care needs, including those with 22q11.2 deletion syndrome (22q), which represents a group predisposed to intellectual disabilities. Individuals with intellectual disabilities have sexual needs just like other people, but they may not know as much about sex, sexuality, and sexual health. Just like the general population, individuals with intellectual disabilities may behave in ways that put them at risk of negative health outcomes, including unplanned pregnancies and sexually transmitted infections. High-risk sexual behaviours are important to identify, as the potential outcomes associated with some behaviours are not only important in themselves, but could have significant impacts on pre-existing medical and psychiatric conditions (common in adults with 22q).

To our knowledge, our team conducted the first study of sexual knowledge and behaviour in 67 adults with 22q. We found that adults with 22q, with and without intellectual disabilities or identified sexual health knowledge deficits, were engaging in sexual activities, and sometimes including high-risk sexual activities with others. We conclude that there is a need to increase preventative sexual health measures (e.g. STI screening and cancer prevention), provide a safe, sex-positive space for sexual health discussions, repeated education and counselling in certain areas. etc. in order to have the potential to reduce overall burden of disease and help improve overall quality of life in adults with 22q.

Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model
Fiksinski AM, Heung T, Corral M, Breetvelt EJ, Costain G, Marshall CR, Kahn RS, Vorstman JAS, Bassett AS.
Psychological Medicine, (pages 1–9), e-published 14 January 2021 ahead of print
doi.org/10.1017/S0033291720005279

Adults with 22q11.2 deletion syndrome (22q11.2DS) show a wide range of expression in most features, including those related to the nervous system. In this study, researchers looked at whether the variability of features in unaffected parents might help explain some of the differences among individuals who have a spontaneously occurring (non-inherited) 22q11.2 deletion. They found that within each family, the 22q11.2 deletion has by far the largest effect on the intellectual functioning of the person with 22q11.2DS but the IQ scores also have a relationship to the IQ scores of the unaffected parents. This parent-offspring relationship is similar to what has been observed in the general population for IQ, and was present even after accounting for any effects of schizophrenia. On the other hand, the researchers did not find that there was any significant relationship between the parents’ social or motor functioning and the social or motor functioning of the person with 22q11.2DS, suggesting that other, non-shared factors may play a role for these traits.

22q11.2 microdeletion and increased risk for type 2 diabetes
Van L, Heung T, Malecki SL, Fenn C, Tyrer A, Sanches M, Chow EWC, Boot, E, Corral M, Dash S, George SR, Bassett AS
EClinicalMedicine - The Lancet, 2020 (published online)
doi.org/10.1016/j.eclinm.2020.100528

In our current study, we studied the possible effect of 22q on the risk of type 2 diabetes (T2D). For 314 adults with 22q, we were able to compare data to similar data from a survey of 11,874 Canadian adults. We found that individuals with 22q were more likely to develop T2D compared to the general population, even when we took into account other risk factors for diabetes, like older age, obesity, medications, and family history of diabetes. Also, the average age at diagnosis of diabetes was younger in adults with 22q. This new knowledge means that we are changing when we start to monitor for diabetes in 22q. This will allow us to put in place measures to help prevent diabetes!

Please see page 11 of our Clinic’s 2020 Newsletter for an interview with Dr. Sarah (Voll) Malecki.

Personalized medical information card for adults with 22q11.2 deletion syndrome: An initiative to improve communication between patients and healthcare providers
Loo JCY, Boot E, Corral M, Bassett AS.
J Appl Res Intellect Disabil. 2020;33:1534–1540.
doi: 10.1111/jar.12747

Many adults with 22q11.2DS and their family members have a hard time providing crucial information to those who try to help. To solve this problem, our Clinic has been offering personalized medical information cards for patients. As we reported in this article, card users have found the card to be useful in multiple ways. They provide necessary information, speed up interactions with professionals, and help avoid repeat storytelling. If you would like to obtain an electronic copy of the article, please send your request to 22q@uhn.ca. Thank you.

A genetic model for multimorbidity in young adults.
Malecki SL, Van Mil S, Graffi J, Breetvelt E, Corral MG, Boot E, Chow EWC, Sanches M, Verma AA, Bassett AS.
Genetics in Medicine 22:132-141, 2020
doi:10.1038/s41436-019-0603-1

To study the burden of illness in 22q, we compared young to middle-aged adults with 22q to a large community-based Canadian general population sample of over 25,000 people. We defined burden of illness (“multi-morbidity”) as using five or more prescription medications. In the 25-44 year age group the overall burden of illness was most similar to the burden in the general population at age 65. In the 45-64 year age group the burden of illness in 22q was about twice that of the general population. For younger adults, the pattern tended to be consistent with the conditions commonly associated with 22q, but in middle age in 22q the pattern looked more similar to older age groups of the general population. Our results highlight the importance of providing multidisciplinary and person centred care for adults with 22q.

Please see page 11 of our Clinic’s 2020 Newsletter for an interview with Dr. Sarah (Voll) Malecki.

All-cause mortality and survival in adults with 22q11.2 deletion syndrome
Van L, Heung T, Graffi J, Ng E, Malecki S, Van Mil S, Boot E, Corral M, Chow EWC, Hodgkinson KA, Silversides C, Bassett AS. Genet Med. 21(10):2328-2335, 2019.
doi: 10.1038/s41436-019-0509-y

As information is limited on long term outcomes in 22q, we studied mortality and survival in 309 adults with 22q and their 1014 unaffected parents and siblings. The results showed that the probability of survival to age 45 years was approximately 95% for those with no major congenital heart defect, and 72% for those with a major heart defect. Although the 22q11.2 deletion and more severe forms of congenital heart defects contribute to a significantly lower life expectancy than family-based expectations, a substantial minority of individuals with 22q had outlived both parents. The average age at death was approximately 5 years older than the age we reported 10 years ago for the initial subgroup of 100 patients with 22q.

Neurocognition and adaptive functioning in a genetic high risk model of schizophrenia
Fiksinski AM, Breetvelt EJ, Lee YJ, Boot E, Butcher N, Palmer L, Chow EWC, Kahn RS, Vorstman JAS, Bassett AS.
Psychol Med. 49(6):1047-1054, 2019.
doi: 10.1017/S0033291718001824.

The results of this study showed the average relative cognitive strengths and weaknesses in 22q (e.g., relatively better on tasks related to visual than verbal memory, and better yet when given hints). The best overall performance for adults with 22q was in Daily Living Skills. Older age was significantly associated with better functional outcomes. Executive Performance (tasks requiring more abstract thinking and judgment) was significantly associated with functional outcome. The fact that there was substantial variability between individuals emphasized the need to recognize and balance individual capabilities and environmental demands in day-to-day situations.

22q11.2 deletion syndrome-associated Parkinson’s disease.
Boot E, Bassett AS, Marras C.
Movement Disorders Clinical Practice 6:11-16, 2019
doi:10.1002/mdc3.12687

This paper reviewed what is known so far about the hallmark motor symptoms and neuropathology of Parkinson’s disease. Typical findings are present in individuals with 22q who develop Parkinson’s disease, often at a young age (average 40 years). 22q11.2DS associated Parkinson’s disease accounts for about half of 1% of all individuals with early-onset Parkinson’s disease. Studying Parkinson’s disease in people with 22q could help us understand the mechanisms that cause this condition in the general population.

Low prevalence of substance use in people with 22q11.2 deletion syndrome.
Vingerhoets C, van Oudenaren MJF, Bloemen OJN, Boot E, van Duin EDA, Evers LJM, Fiksinski AM, Breetvelt EJ, Palmer LD, Vergaelen E, Vogels A, Meijer C, Booij J; Genetic Risk and Outcome of Psychosis (GROUP) investigators, de Haan L, Swillen A, Vorstman JAS, Bassett AS, van Amelsvoort TAMJ
British Journal of Psychiatry, 3:1-7, 2019
doi:10.1192/bjp.2018.258

The results of this study suggested that patients with 22q are at decreased risk for substance use and substance use disorders compared to individuals in the general population. Drinking, smoking, and drug use however are major health problems for some individuals with 22q, requiring active treatment and prevention measures.

Neurobiological perspective of 22q11.2 deletion syndrome
Zinkstok JR, Boot E, Bassett AS, Hiroi N, Butcher NJ, Vingerhoets C, Vorstman JAS, van Amelsvoort TAMJ.
Lancet Psychiatry. 6(11):951-960, 2019.Epub 2019 Aug 5.
doi: 10.1016/S2215-0366(19)30076-8.

This review paper summarizes what we know about disorders common in 22q that involve the brain. These include intellectual disability, schizophrenia, attention-deficit disorder, anxiety disorders, seizures, and Parkinson’s disease. Learning more about them in people with 22q may help scientists understand better these same conditions in the general population.

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS.
Genet Med. 2019 Apr;21(4):1001-1007.
doi: 10.1038/s41436-018-0260-9.

See the UHN Newsroom article

Studying adults who were born with major heart defects (“blue babies”), but who did not have 22q, we discovered a new pathway to these important conditions. We used the most advanced genetic sequencing methods available and carefully examined for changes to genes that were likely to cause problems with the development of the heart. The findings focussed on a signalling mechanism that may be important for many individuals, including those with 22q.

Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: an overview and case series
Butcher NJ, Boot E, Lang AE, Andrade D, Vorstman JA, Bassett AS
American Journal of Medical Genetics A (pages 1-14), 2018, e-published 19 May 2018
doi.org/10.1002/ajmga.38708

Catatonia is a set of symptoms that include abnormal involuntary movements and behaviours that sometimes occur in individuals with psychiatric conditions like schizophrenia and depression and in some neurological diseases. In this study, the authors provide an overview of the psychiatric and neurological symptoms and conditions associated with catatonia in adults with 22q. The results may help with the diagnosis of catatonia so that effective treatment can be provided as early as possible.

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome
Palmer LD, Butcher NJ, Boot E, Hodgkinson KA, Heung T, Chow EWC, Guna A, Crowley TB, Zackai E, McDonald-McGinn DM, Bassett AS
American Journal of Medical Genetics A 176:936-944, 2018
doi: 10.1002/ajmga.38645

Individuals with 22q are often undiagnosed for years because this condition is not easily recognizable. This study analyzed the time it took for a diagnosis of 22q and reasons for delays across age and groups in Toronto and Philadelphia. Problems with the palate and heart were associated with shorter times to a 22q diagnosis. Non-European ancestry lead to longer times. There is a great need for education about 22q so that the condition is more widely known.