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Complete trisomy 21 syndrome(DS)

MedGen UID:
4385
Concept ID:
C0013080
Disease or Syndrome
Synonyms: Down syndrome; DS; T21
SNOMED CT: T21 - Trisomy 21 (41040004); Downs syndrome (41040004); Trisomy 21 (737542000); Complete trisomy 21 syndrome (41040004); Down syndrome (41040004)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): GATA1 (Xp11.23)
 
Monarch Initiative: MONDO:0008608
OMIM®: 190685
Orphanet: ORPHA870

Definition

Down syndrome, the most frequent form of mental retardation caused by a microscopically demonstrable chromosomal aberration, is characterized by well-defined and distinctive phenotypic features and natural history. It is caused by triplicate state (trisomy) of all or a critical portion of chromosome 21. [from OMIM]

Additional description

From MedlinePlus Genetics
Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.\n\nPeople with Down syndrome often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures), small ears, a short neck, and a tongue that tends to stick out of the mouth. Affected individuals may have a variety of birth defects. Many people with Down syndrome have small hands and feet and a single crease across the palms of the hands. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common.\n\nIndividuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia).\n\nDelayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals can have growth problems and their speech and language develop later and more slowly than in children without Down syndrome. Additionally, speech may be difficult to understand in individuals with Down syndrome. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction.\n\nPeople with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer disease. Although Alzheimer disease is usually a disorder that occurs in older adults, people with Down syndrome commonly develop this condition earlier, in their fifties or sixties.  https://medlineplus.gov/genetics/condition/down-syndrome

Clinical features

From HPO
Acute megakaryoblastic leukemia
MedGen UID:
44124
Concept ID:
C0023462
Neoplastic Process
A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts.
Myeloproliferative disorder
MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Broad palm
MedGen UID:
75535
Concept ID:
C0264142
Congenital Abnormality
For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length.
Single transverse palmar crease
MedGen UID:
96108
Concept ID:
C0424731
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.
Short middle phalanx of the 5th finger
MedGen UID:
322335
Concept ID:
C1834060
Anatomical Abnormality
Hypoplastic/small middle phalanx of the fifth finger.
Short palm
MedGen UID:
334684
Concept ID:
C1843108
Finding
Short palm.
Shallow acetabular fossae
MedGen UID:
344384
Concept ID:
C1854910
Finding
Complete atrioventricular canal defect
MedGen UID:
65132
Concept ID:
C0221215
Congenital Abnormality
A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Duodenal stenosis
MedGen UID:
66761
Concept ID:
C0238093
Anatomical Abnormality
The narrowing or partial blockage of a portion of the duodenum.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Alzheimer disease
MedGen UID:
1853
Concept ID:
C0002395
Disease or Syndrome
Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT). Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. Genetic Heterogeneity of Alzheimer Disease Alzheimer disease is a genetically heterogeneous disorder. See also AD2 (104310), associated with the APOE*4 allele (107741) on chromosome 19; AD3 (607822), caused by mutation in the presenilin-1 gene (PSEN1; 104311) on 14q; and AD4 (606889), caused by mutation in the PSEN2 gene (600759) on 1q31. There is evidence for additional AD loci on other chromosomes; see AD5 (602096) on 12p11; AD6 (605526) on 10q24; AD7 (606187) on 10p13; AD8 (607116) on 20p; AD9 (608907), associated with variation in the ABCA7 gene (605414) on 19p13; AD10 (609636) on 7q36; AD11 (609790) on 9q22; AD12 (611073) on 8p12-q22; AD13 (611152) on 1q21; AD14 (611154) on 1q25; AD15 (604154) on 3q22-q24; AD16 (300756) on Xq21.3; AD17 (615080) on 6p21.2; and AD18 (615590), associated with variation in the ADAM10 gene (602192) on 15q21. Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (502500). Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; 103950.0005), low density lipoprotein-related protein-1 (LRP1; 107770), the transferrin gene (TF; 190000), the hemochromatosis gene (HFE; 613609), the NOS3 gene (163729), the vascular endothelial growth factor gene (VEGF; 192240), the ABCA2 gene (600047), and the TNF gene (191160) (see MOLECULAR GENETICS).
Aganglionic megacolon
MedGen UID:
5559
Concept ID:
C0019569
Disease or Syndrome
The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid (Amiel et al., 2008). Total colonic aganglionosis and total intestinal HSCR also occur. Genetic Heterogeneity of Hirschsprung Disease Several additional loci for isolated Hirschsprung disease have been mapped. HSCR2 (600155) is associated with variation in the EDNRB gene (131244) on 13q22; HSCR3 (613711) is associated with variation in the GDNF gene (600837) on 5p13; HSCR4 (613712) is associated with variation in the EDN3 gene (131242) on 20q13; HSCR5 (600156) maps to 9q31; HSCR6 (606874) maps to 3p21; HSCR7 (606875) maps to 19q12; HSCR8 (608462) maps to 16q23; and HSCR9 (611644) maps to 4q31-q32. HSCR also occurs as a feature of several syndromes including the Waardenburg-Shah syndrome (277580), Mowat-Wilson syndrome (235730), Goldberg-Shprintzen syndrome (609460), and congenital central hypoventilation syndrome (CCHS; 209880). Whereas mendelian modes of inheritance have been described for syndromic HSCR, isolated HSCR stands as a model for genetic disorders with complex patterns of inheritance. Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance. The development of surgical procedures decreased mortality and morbidity, which allowed the emergence of familial cases. HSCR occurs as an isolated trait in 70% of patients, is associated with chromosomal anomaly in 12% of cases, and occurs with additional congenital anomalies in 18% of cases (summary by Amiel et al., 2008).
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Joint laxity
MedGen UID:
39439
Concept ID:
C0086437
Finding
Lack of stability of a joint.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Atlantoaxial instability
MedGen UID:
98381
Concept ID:
C0410653
Disease or Syndrome
Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Anatomical Abnormality
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Hypoplastic iliac wing
MedGen UID:
351279
Concept ID:
C1865027
Anatomical Abnormality
Underdevelopment of the ilium ala.
Macroglossia
MedGen UID:
44236
Concept ID:
C0024421
Disease or Syndrome
Increased length and width of the tongue.
Protruding tongue
MedGen UID:
66831
Concept ID:
C0241442
Finding
Tongue extending beyond the alveolar ridges or teeth at rest.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Epicanthal fold
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.
Thickened nuchal skin fold
MedGen UID:
324644
Concept ID:
C1836940
Finding
A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold (NF) measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. An NF measurement greater than 5 mm at 14 to 17+6 weeks of gestation, or 6 mm at 18 to 28 weeks has been associated with a markedly increased risk for Down syndrome.
Prenatal double bubble sign
MedGen UID:
990648
Concept ID:
CN307289
Finding
Sonographic detection of a double bubble sign in the upper abdomen is strongly indicative of duodenal obstruction. One bubble represents fetal stomach, and the other is attributed to a dilated proximal part of the duodenum; continuity between both bubbles is required for the sign.
Abnormal fetal nasal bone visualization
MedGen UID:
988883
Concept ID:
CN307335
Finding
Abnormal appearance or non-visualization (apparent absence) of the nasal bone of a fetus in first trimester sonographic screening. Assessment of the fetal nasal bone is generally performed at 11-14 weeks gestational age.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.
Brushfield spots
MedGen UID:
266270
Concept ID:
C1303007
Finding
The presence of whitish spots in a ring-like arrangement at the periphery of the iris.

Professional guidelines

PubMed

Bull MJ, Trotter T, Santoro SL, Christensen C, Grout RW; COUNCIL ON GENETICS., Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P
Pediatrics 2022 May 1;149(5) doi: 10.1542/peds.2022-057010. PMID: 35490285
Palomaki GE, Chiu RWK, Pertile MD, Sistermans EA, Yaron Y, Vermeesch JR, Vora NL, Best RG, Wilkins-Haug L
Prenat Diagn 2021 Sep;41(10):1222-1232. Epub 2020 Nov 15 doi: 10.1002/pd.5832. PMID: 33016373
Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS
Genet Med 2016 Oct;18(10):1056-65. Epub 2016 Jul 28 doi: 10.1038/gim.2016.97. PMID: 27467454
Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC; European Society of Human Genetics.; American Society of Human Genetics.
Eur J Hum Genet 2015 Nov;23(11):1438-50. Epub 2015 Mar 18 doi: 10.1038/ejhg.2015.57. PMID: 25782669Free PMC Article
Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, Flodman P
J Genet Couns 2013 Jun;22(3):291-5. Epub 2013 Jan 22 doi: 10.1007/s10897-012-9564-0. PMID: 23334531
Benn P, Borrell A, Cuckle H, Dugoff L, Gross S, Johnson JA, Maymon R, Odibo A, Schielen P, Spencer K, Wright D, Yaron Y
Prenat Diagn 2012 Jan;32(1):1-2. Epub 2012 Jan 24 doi: 10.1002/pd.2919. PMID: 22275335
Bull MJ; Committee on Genetics.
Pediatrics 2011 Aug;128(2):393-406. Epub 2011 Jul 25 doi: 10.1542/peds.2011-1605. PMID: 21788214
Sheets KB, Crissman BG, Feist CD, Sell SL, Johnson LR, Donahue KC, Masser-Frye D, Brookshire GS, Carre AM, Lagrave D, Brasington CK
J Genet Couns 2011 Oct;20(5):432-41. Epub 2011 May 27 doi: 10.1007/s10897-011-9375-8. PMID: 21618060
Driscoll DA, Gross SJ; Professional Practice Guidelines Committee.
Genet Med 2009 Nov;11(11):818-21. doi: 10.1097/GIM.0b013e3181bb267b. PMID: 19915395Free PMC Article
Driscoll DA, Gross SJ; Professional Practice and Guidelines Committee.
Genet Med 2008 Jan;10(1):73-5. doi: 10.1097/GIM.0b013e31815efde8. PMID: 18197059Free PMC Article
ACOG Committee on Practice Bulletins.
Obstet Gynecol 2007 Jan;109(1):217-27. doi: 10.1097/00006250-200701000-00054. PMID: 17197615
Shaffer LG; American College of Medical Genetics Professional Practice and Guidelines Committee.
Genet Med 2005 Nov-Dec;7(9):650-4. doi: 10.1097/01.gim.0000186545.83160.1e. PMID: 16301868Free PMC Article

External

National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening

Recent clinical studies

Etiology

Cabrera MJ, Haugen K, Krell K, Torres A, Santoro SL
Eur J Med Genet 2022 Aug;65(8):104550. Epub 2022 Jun 21 doi: 10.1016/j.ejmg.2022.104550. PMID: 35750159
Santoro JD, Partridge R, Tanna R, Pagarkar D, Khoshnood M, Rehmani M, Kammeyer RM, Gombolay GY, Fisher K, Conravey A, El-Dahr J, Christy AL, Patel L, Manning MA, Van Mater H, Rafii MS, Quinn EA
J Neurodev Disord 2022 Jun 3;14(1):35. doi: 10.1186/s11689-022-09446-w. PMID: 35659536Free PMC Article
Gupte A, Al-Antary ET, Edwards H, Ravindranath Y, Ge Y, Taub JW
Biochem Pharmacol 2022 Jul;201:115046. Epub 2022 Apr 26 doi: 10.1016/j.bcp.2022.115046. PMID: 35483417
John ST, Gayathri K, Sahasranam KV
J Pediatr 2022 Jun;245:196-200. Epub 2022 Jan 31 doi: 10.1016/j.jpeds.2022.01.034. PMID: 35114288
Lehman A, Leach M, Santoro SL
Am J Med Genet A 2021 Dec;185(12):3615-3622. Epub 2021 Jul 1 doi: 10.1002/ajmg.a.62408. PMID: 34196452

Diagnosis

Gupte A, Al-Antary ET, Edwards H, Ravindranath Y, Ge Y, Taub JW
Biochem Pharmacol 2022 Jul;201:115046. Epub 2022 Apr 26 doi: 10.1016/j.bcp.2022.115046. PMID: 35483417
Hseu AF, Spencer GP, Jo S, Clark R, Nuss RC
Int J Pediatr Otorhinolaryngol 2022 Jun;157:111118. Epub 2022 Mar 26 doi: 10.1016/j.ijporl.2022.111118. PMID: 35405441
John ST, Gayathri K, Sahasranam KV
J Pediatr 2022 Jun;245:196-200. Epub 2022 Jan 31 doi: 10.1016/j.jpeds.2022.01.034. PMID: 35114288
Zakharchenko L, El-Khuffash A, Molloy EJ, Breatnach C, Franklin O
Cardiol Young 2022 Jun;32(6):960-968. Epub 2021 Aug 31 doi: 10.1017/S1047951121003449. PMID: 34462021
Lehman A, Leach M, Santoro SL
Am J Med Genet A 2021 Dec;185(12):3615-3622. Epub 2021 Jul 1 doi: 10.1002/ajmg.a.62408. PMID: 34196452

Therapy

Iulita MF, Garzón Chavez D, Klitgaard Christensen M, Valle Tamayo N, Plana-Ripoll O, Rasmussen SA, Roqué Figuls M, Alcolea D, Videla L, Barroeta I, Benejam B, Altuna M, Padilla C, Pegueroles J, Fernandez S, Belbin O, Carmona-Iragui M, Blesa R, Lleó A, Bejanin A, Fortea J
JAMA Netw Open 2022 May 2;5(5):e2212910. doi: 10.1001/jamanetworkopen.2022.12910. PMID: 35604690Free PMC Article
Laetsch TW, Maude SL, Balduzzi A, Rives S, Bittencourt H, Boyer MW, Buechner J, De Moerloose B, Qayed M, Phillips CL, Pulsipher MA, Hiramatsu H, Tiwari R, Grupp SA
Leukemia 2022 Jun;36(6):1508-1515. Epub 2022 Apr 14 doi: 10.1038/s41375-022-01550-z. PMID: 35422096
Baumer NT, Becker ML, Capone GT, Egan K, Fortea J, Handen BL, Head E, Hendrix JE, Litovsky RY, Strydom A, Tapia IE, Rafii MS
J Neurodev Disord 2022 Mar 23;14(1):22. doi: 10.1186/s11689-022-09435-z. PMID: 35321660Free PMC Article
Goeldner C, Kishnani PS, Skotko BG, Casero JL, Hipp JF, Derks M, Hernandez MC, Khwaja O, Lennon-Chrimes S, Noeldeke J, Pellicer S, Squassante L, Visootsak J, Wandel C, Fontoura P, d'Ardhuy XL; Clematis Study Group.
J Neurodev Disord 2022 Feb 5;14(1):10. doi: 10.1186/s11689-022-09418-0. PMID: 35123401Free PMC Article
Vielkind ML, Hamlington KL, Wolter-Warmerdam K, Meier MR, Liu AH, Hickey FJ, Brown MA, DeBoer EM
Pediatr Res 2022 Jun;91(7):1775-1780. Epub 2021 Jul 29 doi: 10.1038/s41390-021-01664-7. PMID: 34326475

Prognosis

Gupte A, Al-Antary ET, Edwards H, Ravindranath Y, Ge Y, Taub JW
Biochem Pharmacol 2022 Jul;201:115046. Epub 2022 Apr 26 doi: 10.1016/j.bcp.2022.115046. PMID: 35483417
Pranpanus S, Keatkongkaew K, Suksai M
BMC Pregnancy Childbirth 2022 Jan 11;22(1):27. doi: 10.1186/s12884-021-04332-0. PMID: 35016623Free PMC Article
Griffiths M, Yang J, Vaidya D, Nies M, Brandal S, Ivy DD, Hickey F, Wolter-Warmerdam K, Austin ED, Mullen M, Pauciulo MW, Lutz KA, Rosenzweig EB, Hirsch R, Yung D, Nichols WC, Everett AD
J Pediatr 2022 Feb;241:68-76.e3. Epub 2021 Oct 21 doi: 10.1016/j.jpeds.2021.10.017. PMID: 34687693Free PMC Article
Hizal M, Satırer O, Polat SE, Tural DA, Ozsezen B, Sunman B, Karahan S, Emiralioglu N, Simsek-Kiper PO, Utine GE, Boduroglu K, Yalcin E, Dogru D, Kiper N, Ozcelik U
Eur J Pediatr 2022 Feb;181(2):735-743. Epub 2021 Sep 25 doi: 10.1007/s00431-021-04267-w. PMID: 34562164Free PMC Article
Zakharchenko L, El-Khuffash A, Molloy EJ, Breatnach C, Franklin O
Cardiol Young 2022 Jun;32(6):960-968. Epub 2021 Aug 31 doi: 10.1017/S1047951121003449. PMID: 34462021

Clinical prediction guides

Hseu AF, Spencer GP, Jo S, Clark R, Nuss RC
Int J Pediatr Otorhinolaryngol 2022 Jun;157:111118. Epub 2022 Mar 26 doi: 10.1016/j.ijporl.2022.111118. PMID: 35405441
Smith A, Bussmann N, Breatnach C, Levy PT, Molloy E, Miletin J, Curley A, McCallion N, Franklin O, El-Khuffash AF
J Pediatr 2022 Jun;245:172-178.e5. Epub 2022 Feb 14 doi: 10.1016/j.jpeds.2022.02.014. PMID: 35176311
John ST, Gayathri K, Sahasranam KV
J Pediatr 2022 Jun;245:196-200. Epub 2022 Jan 31 doi: 10.1016/j.jpeds.2022.01.034. PMID: 35114288
Zakharchenko L, El-Khuffash A, Molloy EJ, Breatnach C, Franklin O
Cardiol Young 2022 Jun;32(6):960-968. Epub 2021 Aug 31 doi: 10.1017/S1047951121003449. PMID: 34462021
Channell MM, Mattie LJ, Hamilton DR, Capone GT, Mahone EM, Sherman SL, Rosser TC, Reeves RH, Kalb LG; Down Syndrome Cognition Project.
J Neurodev Disord 2021 Apr 19;13(1):16. doi: 10.1186/s11689-021-09365-2. PMID: 33874886Free PMC Article

Recent systematic reviews

Hanna N, Hanna Y, Blinder H, Bokhaut J, Katz SL
Eur Respir Rev 2022 Jun 30;31(164) Epub 2022 Jun 28 doi: 10.1183/16000617.0026-2022. PMID: 35768130
Magenis ML, de Faveri W, Castro K, Forte GC, Grande AJ, Perry IS
J Intellect Disabil 2022 Mar;26(1):244-263. Epub 2020 Nov 25 doi: 10.1177/1744629520970078. PMID: 33234015
Huete-García A, Otaola-Barranquero M
Int J Environ Res Public Health 2021 Jan 5;18(1) doi: 10.3390/ijerph18010352. PMID: 33466470Free PMC Article
Capone G, Stephens M, Santoro S, Chicoine B, Bulova P, Peterson M, Jasien J, Smith AJ; Down Syndrome Medical Interest Group (DSMIG-USA) Adult Health Workgroup.
Am J Med Genet A 2020 Jul;182(7):1832-1845. Epub 2020 Apr 27 doi: 10.1002/ajmg.a.61604. PMID: 32338447
Krishnamurthy R, Ramani SA
Int J Pediatr Otorhinolaryngol 2020 Jun;133:109946. Epub 2020 Feb 14 doi: 10.1016/j.ijporl.2020.109946. PMID: 32087479

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