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Developmental delay, behavioral abnormalities, and neuropsychiatric disorders(DEDBANP)

MedGen UID:
1823997
Concept ID:
C5774224
Disease or Syndrome
Synonym: DEDBANP
 
Gene (location): ADGRL1 (19p13.12)
 
Monarch Initiative: MONDO:0859292
OMIM®: 620065

Definition

Developmental delay, behavioral abnormalities, and neuropsychiatric disorders (DEDBANP) is a neurodevelopmental disorder characterized by mild global developmental delay and normal or variably impaired intellectual development. Most individuals have behavioral or neuropsychiatric disorders, including autism spectrum disorder (ASD), attention deficit-hyperactivity disorder (ADHD), and executive functioning deficits. Additional features may include speech delay, dysmorphic features, hypotonia, sleep disturbances, and seizures (Vitobello et al., 2022). [from OMIM]

Clinical features

From HPO
Overweight
MedGen UID:
105424
Concept ID:
C0497406
Finding
Increased body weight with a body mass index of 25-29.9 kg per square meter.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Sleep abnormality
MedGen UID:
52372
Concept ID:
C0037317
Sign or Symptom
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Motor stereotypies
MedGen UID:
21318
Concept ID:
C0038271
Individual Behavior
Use of the same abnormal action in response to certain triggers or at random. They may be used as a way to regulate one's internal state but must otherwise have no apparent functional purpose.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.
Periventricular nodular heterotopia
MedGen UID:
358387
Concept ID:
C1868720
Disease or Syndrome
Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Delayed ability to sit
MedGen UID:
1368737
Concept ID:
C4476710
Finding
A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.
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 hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.

Professional guidelines

PubMed

D'Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blazekovic A, Jercic KG, Markovic S, Zigman T, Goran K, Barišić N, Duranovic V, Ban A, Borovecki F, Ramadža DP, Barić I, Fazeli W, Herkenrath P, Marini C, Vittorini R, Gowda V, Bouman A, Rocca C, Alkhawaja IA, Murtaza BN, Rehman MMU, Al Alam C, Nader G, Mancardi MM, Giacomini T, Srivastava S, Alvi JR, Tomoum H, Matricardi S, Iacomino M, Riva A, Scala M, Madia F, Pistorio A, Salpietro V, Minetti C, Rivière JB, Srour M, Efthymiou S, Maroofian R, Houlden H, Vernes SC, Zara F, Striano P, Nagy V
Hum Genet 2023 Jul;142(7):909-925. Epub 2023 May 14 doi: 10.1007/s00439-023-02552-2. PMID: 37183190Free PMC Article
Zoubovsky SP, Wilder A, Muglia L
J Vis Exp 2021 Jun 13;(172) doi: 10.3791/62464. PMID: 34180900

Recent clinical studies

Etiology

Budisteanu M, Papuc SM, Streata I, Cucu M, Pirvu A, Serban-Sosoi S, Erbescu A, Andrei E, Iliescu C, Ioana D, Severin E, Ioana M, Arghir A
Genes (Basel) 2021 Jul 1;12(7) doi: 10.3390/genes12071025. PMID: 34356041Free PMC Article
Zoubovsky SP, Wilder A, Muglia L
J Vis Exp 2021 Jun 13;(172) doi: 10.3791/62464. PMID: 34180900
Guell X, Anteraper SA, Ghosh SS, Gabrieli JDE, Schmahmann JD
Cerebellum 2020 Feb;19(1):16-29. doi: 10.1007/s12311-019-01050-4. PMID: 31321675Free PMC Article
Sim F, Haig C, O'Dowd J, Thompson L, Law J, McConnachie A, Gillberg C, Wilson P
Res Dev Disabil 2015 Oct-Nov;45-46:69-82. Epub 2015 Jul 28 doi: 10.1016/j.ridd.2015.07.017. PMID: 26226112
Dykens EM, Smith AC
J Intellect Disabil Res 1998 Dec;42 ( Pt 6):481-9. doi: 10.1046/j.1365-2788.1998.4260481.x. PMID: 10030444

Diagnosis

Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM
Orphanet J Rare Dis 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. PMID: 38459574Free PMC Article
Conti B, Rinaldi B, Rimoldi M, Villa R, Iascone M, Gangi S, Porro M, Ajmone PF, Colli AM, Mosca F, Bedeschi MF
Am J Med Genet A 2023 Jun;191(6):1586-1592. Epub 2023 Feb 26 doi: 10.1002/ajmg.a.63164. PMID: 36843271
Grasso M, Lazzaro G, Demaria F, Menghini D, Vicari S
Int J Environ Res Public Health 2022 Jun 23;19(13) doi: 10.3390/ijerph19137731. PMID: 35805390Free PMC Article
Guell X, Anteraper SA, Ghosh SS, Gabrieli JDE, Schmahmann JD
Cerebellum 2020 Feb;19(1):16-29. doi: 10.1007/s12311-019-01050-4. PMID: 31321675Free PMC Article
Sim F, Haig C, O'Dowd J, Thompson L, Law J, McConnachie A, Gillberg C, Wilson P
Res Dev Disabil 2015 Oct-Nov;45-46:69-82. Epub 2015 Jul 28 doi: 10.1016/j.ridd.2015.07.017. PMID: 26226112

Therapy

Sim F, Haig C, O'Dowd J, Thompson L, Law J, McConnachie A, Gillberg C, Wilson P
Res Dev Disabil 2015 Oct-Nov;45-46:69-82. Epub 2015 Jul 28 doi: 10.1016/j.ridd.2015.07.017. PMID: 26226112
Dinieri JA, Hurd YL
Methods Mol Biol 2012;829:231-42. doi: 10.1007/978-1-61779-458-2_14. PMID: 22231817

Prognosis

Grasso M, Lazzaro G, Demaria F, Menghini D, Vicari S
Int J Environ Res Public Health 2022 Jun 23;19(13) doi: 10.3390/ijerph19137731. PMID: 35805390Free PMC Article
Zoubovsky SP, Wilder A, Muglia L
J Vis Exp 2021 Jun 13;(172) doi: 10.3791/62464. PMID: 34180900
Vyas S, Constantino JN, Baldridge D
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004291. PMID: 31836587Free PMC Article
Sim F, Haig C, O'Dowd J, Thompson L, Law J, McConnachie A, Gillberg C, Wilson P
Res Dev Disabil 2015 Oct-Nov;45-46:69-82. Epub 2015 Jul 28 doi: 10.1016/j.ridd.2015.07.017. PMID: 26226112
Dykens EM, Smith AC
J Intellect Disabil Res 1998 Dec;42 ( Pt 6):481-9. doi: 10.1046/j.1365-2788.1998.4260481.x. PMID: 10030444

Clinical prediction guides

Fetta A, Toni F, Pettenuzzo I, Ricci E, Rocca A, Gambi C, Soliani L, Di Pisa V, Martini S, Sperti G, Cagnazzo V, Accorsi P, Bartolini E, Battaglia D, Bernardo P, Canevini MP, Ferrari AR, Giordano L, Locatelli C, Mancardi M, Orsini A, Pippucci T, Pruna D, Rosati A, Suppiej A, Tagliani S, Vaisfeld A, Vignoli A, Izumi K, Krantz I, Cordelli DM
Orphanet J Rare Dis 2024 Mar 8;19(1):107. doi: 10.1186/s13023-024-03065-5. PMID: 38459574Free PMC Article
Budisteanu M, Papuc SM, Streata I, Cucu M, Pirvu A, Serban-Sosoi S, Erbescu A, Andrei E, Iliescu C, Ioana D, Severin E, Ioana M, Arghir A
Genes (Basel) 2021 Jul 1;12(7) doi: 10.3390/genes12071025. PMID: 34356041Free PMC Article
Baldwin I, Shafer RL, Hossain WA, Gunewardena S, Veatch OJ, Mosconi MW, Butler MG
Int J Mol Sci 2021 Feb 7;22(4) doi: 10.3390/ijms22041660. PMID: 33562221Free PMC Article
Vyas S, Constantino JN, Baldridge D
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004291. PMID: 31836587Free PMC Article
Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE
Nat Commun 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8. PMID: 31616000Free PMC Article

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