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Receptive language delay

MedGen UID:
451061
Concept ID:
C0454642
Finding; Mental or Behavioral Dysfunction
Synonyms: Developmental receptive language delay; Receptive developmental language delay
SNOMED CT: Developmental receptive language delay (229736005); Receptive developmental language delay (229736005); Receptive language delay (229736005)
 
HPO: HP:0010863

Definition

A delay in the acquisition of the ability to understand the speech of others. [from HPO]

Conditions with this feature

Potocki-Lupski syndrome
MedGen UID:
444010
Concept ID:
C2931246
Disease or Syndrome
Potocki-Lupski syndrome (PTLS) is characterized by cognitive, behavioral, and medical manifestations. Cognitively, most individuals present with developmental delay, later meeting criteria for moderate intellectual disability. Behaviorally, issues with attention, hyperactivity, withdrawal, and anxiety may be seen. Some individuals meet criteria for autism spectrum disorder. Medically, hypotonia, oropharyngeal dysphagia leading to failure to thrive, congenital heart disease, hypoglycemia associated with growth hormone deficiency, and mildly dysmorphic facial features are observed. Medical manifestations typically lead to identification of PTLS in infancy; however, those with only behavioral and cognitive manifestations may be identified in later childhood.
Chromosome 10q23 deletion syndrome
MedGen UID:
906099
Concept ID:
C4225669
Disease or Syndrome
The 10q22.3-q23.2 region is characterized by a complex set of low-copy repeats (LCRs), which can give rise to various genomic changes mediated by nonallelic homologous recombination (NAHR). Recurrent deletions of chromosome 10q22.3-q23.2, including the BMPR1A gene (601299) have been associated with dysmorphic facies, developmental delay, and multiple congenital anomalies. Some patients with deletions that extend distally to include the PTEN gene (601728) have a more severe phenotype with infantile/juvenile polyposis, macrocephaly, dysmorphic facial features, and developmental delay (summary by van Bon et al., 2011).
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
MedGen UID:
1648339
Concept ID:
C4748428
Disease or Syndrome
IDDMSSD is a neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures (Harms et al., 2018).
Lessel-Kreienkamp syndrome
MedGen UID:
1762595
Concept ID:
C5436892
Disease or Syndrome
Lessel-Kreienkamp syndrome (LESKRES) is a neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood. The severity of the disorder is highly variable: some patients have mildly delayed walking and mild cognitive deficits, whereas others are nonambulatory and nonverbal. Most have behavioral disorders. Additional features, including seizures, hypotonia, gait abnormalities, visual defects, cardiac defects, and nonspecific dysmorphic facial features, may also be present (summary by Lessel et al., 2020).
Neurodevelopmental disorder with poor growth and behavioral abnormalities
MedGen UID:
1840909
Concept ID:
C5830273
Disease or Syndrome
Neurodevelopmental disorder with poor growth and behavioral abnormalities (NEDGBA) is an autosomal recessive disorder characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD. Affected individuals show failure to thrive with poor overall growth; some have microcephaly. Additional features may include nonspecific facial dysmorphism, hypotonia, and feeding difficulties (Vogt et al., 2022; Meng et al., 2023).

Professional guidelines

PubMed

Chung WK, Herrera FF; Simon's Searchlight Foundation
Cold Spring Harb Mol Case Stud 2023 Dec;9(4) Epub 2024 Jan 10 doi: 10.1101/mcs.a006316. PMID: 38050025Free PMC Article
Hassan M, Patel D, LaRusso K, Koclas L, Smith-Morin Ot M, Shapiro AJ, Sant'Anna A, Altit G, Beauseigle S, Puligandla PS
J Pediatr Surg 2022 May;57(5):846-850. Epub 2022 Jan 13 doi: 10.1016/j.jpedsurg.2021.12.048. PMID: 35090718
Liu XL, Zahrt DM, Simms MD
Pediatr Clin North Am 2018 Feb;65(1):73-90. doi: 10.1016/j.pcl.2017.08.022. PMID: 29173721

Recent clinical studies

Etiology

Lu HH, Che WC, Lin YJ, Liang JS
J Formos Med Assoc 2022 Jun;121(6):1044-1052. Epub 2021 Aug 13 doi: 10.1016/j.jfma.2021.07.026. PMID: 34393007
Marrus N, Hall LP, Paterson SJ, Elison JT, Wolff JJ, Swanson MR, Parish-Morris J, Eggebrecht AT, Pruett JR Jr, Hazlett HC, Zwaigenbaum L, Dager S, Estes AM, Schultz RT, Botteron KN, Piven J, Constantino JN; IBIS Network
J Neurodev Disord 2018 Oct 22;10(1):29. doi: 10.1186/s11689-018-9247-8. PMID: 30348077Free PMC Article
Hustad KC, Sakash A, Broman AT, Rathouz PJ
Dev Med Child Neurol 2018 Nov;60(11):1156-1164. Epub 2018 May 22 doi: 10.1111/dmcn.13904. PMID: 29786137Free PMC Article
Adams-Chapman I, Bann C, Carter SL, Stoll BJ; NICHD Neonatal Research Network
Early Hum Dev 2015 Jun;91(6):373-9. Epub 2015 May 4 doi: 10.1016/j.earlhumdev.2015.03.011. PMID: 25955535Free PMC Article
Rescorla L
Dev Disabil Res Rev 2011;17(2):141-50. doi: 10.1002/ddrr.1108. PMID: 23362033

Diagnosis

Marrus N, Hall LP, Paterson SJ, Elison JT, Wolff JJ, Swanson MR, Parish-Morris J, Eggebrecht AT, Pruett JR Jr, Hazlett HC, Zwaigenbaum L, Dager S, Estes AM, Schultz RT, Botteron KN, Piven J, Constantino JN; IBIS Network
J Neurodev Disord 2018 Oct 22;10(1):29. doi: 10.1186/s11689-018-9247-8. PMID: 30348077Free PMC Article
Hustad KC, Sakash A, Broman AT, Rathouz PJ
Dev Med Child Neurol 2018 Nov;60(11):1156-1164. Epub 2018 May 22 doi: 10.1111/dmcn.13904. PMID: 29786137Free PMC Article
Liu XL, Zahrt DM, Simms MD
Pediatr Clin North Am 2018 Feb;65(1):73-90. doi: 10.1016/j.pcl.2017.08.022. PMID: 29173721
Rescorla L
Dev Disabil Res Rev 2011;17(2):141-50. doi: 10.1002/ddrr.1108. PMID: 23362033
Fagan MK, Montgomery TR
Clin Pediatr (Phila) 2009 Jan;48(1):72-80. Epub 2008 Aug 29 doi: 10.1177/0009922808323108. PMID: 18757840

Therapy

Cohenour TL, Gulsrud A, Kasari C
Autism Res 2023 Sep;16(9):1739-1749. Epub 2023 Jul 5 doi: 10.1002/aur.2973. PMID: 37408377Free PMC Article
Johnstone PM, Yeager KR, Noss E
Int J Audiol 2013 Jun;52(6):400-8. Epub 2013 Apr 16 doi: 10.3109/14992027.2013.779755. PMID: 23586418
Desai S, Kollros PR, Graziani LJ, Streletz LJ, Goodman M, Stanley C, Cullen J, Baumgart S
J Pediatr 1997 Aug;131(2):233-9. doi: 10.1016/s0022-3476(97)70159-8. PMID: 9290609

Prognosis

Hassan M, Patel D, LaRusso K, Koclas L, Smith-Morin Ot M, Shapiro AJ, Sant'Anna A, Altit G, Beauseigle S, Puligandla PS
J Pediatr Surg 2022 May;57(5):846-850. Epub 2022 Jan 13 doi: 10.1016/j.jpedsurg.2021.12.048. PMID: 35090718
Hustad KC, Sakash A, Broman AT, Rathouz PJ
Dev Med Child Neurol 2018 Nov;60(11):1156-1164. Epub 2018 May 22 doi: 10.1111/dmcn.13904. PMID: 29786137Free PMC Article
Adams-Chapman I, Bann C, Carter SL, Stoll BJ; NICHD Neonatal Research Network
Early Hum Dev 2015 Jun;91(6):373-9. Epub 2015 May 4 doi: 10.1016/j.earlhumdev.2015.03.011. PMID: 25955535Free PMC Article
Rescorla L
Dev Disabil Res Rev 2011;17(2):141-50. doi: 10.1002/ddrr.1108. PMID: 23362033
Fagan MK, Montgomery TR
Clin Pediatr (Phila) 2009 Jan;48(1):72-80. Epub 2008 Aug 29 doi: 10.1177/0009922808323108. PMID: 18757840

Clinical prediction guides

Hassan M, Patel D, LaRusso K, Koclas L, Smith-Morin Ot M, Shapiro AJ, Sant'Anna A, Altit G, Beauseigle S, Puligandla PS
J Pediatr Surg 2022 May;57(5):846-850. Epub 2022 Jan 13 doi: 10.1016/j.jpedsurg.2021.12.048. PMID: 35090718
Marrus N, Hall LP, Paterson SJ, Elison JT, Wolff JJ, Swanson MR, Parish-Morris J, Eggebrecht AT, Pruett JR Jr, Hazlett HC, Zwaigenbaum L, Dager S, Estes AM, Schultz RT, Botteron KN, Piven J, Constantino JN; IBIS Network
J Neurodev Disord 2018 Oct 22;10(1):29. doi: 10.1186/s11689-018-9247-8. PMID: 30348077Free PMC Article
Hustad KC, Sakash A, Broman AT, Rathouz PJ
Dev Med Child Neurol 2018 Nov;60(11):1156-1164. Epub 2018 May 22 doi: 10.1111/dmcn.13904. PMID: 29786137Free PMC Article
Adams-Chapman I, Bann C, Carter SL, Stoll BJ; NICHD Neonatal Research Network
Early Hum Dev 2015 Jun;91(6):373-9. Epub 2015 May 4 doi: 10.1016/j.earlhumdev.2015.03.011. PMID: 25955535Free PMC Article
Rescorla L
Dev Disabil Res Rev 2011;17(2):141-50. doi: 10.1002/ddrr.1108. PMID: 23362033

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