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Intellectual developmental disorder with autistic features and language delay, with or without seizures(IDDALDS)

MedGen UID:
1715081
Concept ID:
C5394447
Disease or Syndrome
Synonyms: IDDALDS; INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES
 
Gene (location): TANC2 (17q23.2-23.3)
 
Monarch Initiative: MONDO:0030051
OMIM®: 618906

Definition

Intellectual developmental disorder with autistic features and language delay, with or without seizures (IDDALDS), is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum. About half of patients develop seizures; brain imaging is typically normal. Additional features are highly variable, but may include chronic constipation, walking difficulties, and dysmorphic facial features (summary by Guo et al., 2019). [from OMIM]

Clinical features

From HPO
Chronic constipation
MedGen UID:
98325
Concept ID:
C0401149
Sign or Symptom
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.
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
Finding
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 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.
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\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\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\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.
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Spastic ataxia
MedGen UID:
376528
Concept ID:
C1849156
Disease or Syndrome
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
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.
Craniosynostosis syndrome
MedGen UID:
1163
Concept ID:
C0010278
Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
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.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.

Professional guidelines

PubMed

Charalambous M, Muñana K, Patterson EE, Platt SR, Volk HA
J Vet Intern Med 2024 Jan-Feb;38(1):19-40. Epub 2023 Nov 3 doi: 10.1111/jvim.16928. PMID: 37921621Free PMC Article
Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K, Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S, Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R
Epilepsia 2022 Jun;63(6):1349-1397. Epub 2022 May 3 doi: 10.1111/epi.17239. PMID: 35503712
Abboud H, Probasco JC, Irani S, Ances B, Benavides DR, Bradshaw M, Christo PP, Dale RC, Fernandez-Fournier M, Flanagan EP, Gadoth A, George P, Grebenciucova E, Jammoul A, Lee ST, Li Y, Matiello M, Morse AM, Rae-Grant A, Rojas G, Rossman I, Schmitt S, Venkatesan A, Vernino S, Pittock SJ, Titulaer MJ; Autoimmune Encephalitis Alliance Clinicians Network
J Neurol Neurosurg Psychiatry 2021 Jul;92(7):757-768. Epub 2021 Mar 1 doi: 10.1136/jnnp-2020-325300. PMID: 33649022Free PMC Article

Recent clinical studies

Etiology

Zelano J, Holtkamp M, Agarwal N, Lattanzi S, Trinka E, Brigo F
Epileptic Disord 2020 Jun 1;22(3):252-263. doi: 10.1684/epd.2020.1159. PMID: 32597766
Ziobro J, Shellhaas RA
Semin Neurol 2020 Apr;40(2):246-256. Epub 2020 Mar 6 doi: 10.1055/s-0040-1702943. PMID: 32143234
Shellhaas RA
Handb Clin Neurol 2019;162:347-361. doi: 10.1016/B978-0-444-64029-1.00017-5. PMID: 31324320
Gavvala JR, Schuele SU
JAMA 2016 Dec 27;316(24):2657-2668. doi: 10.1001/jama.2016.18625. PMID: 28027373
Patterson JL, Carapetian SA, Hageman JR, Kelley KR
Pediatr Ann 2013 Dec;42(12):249-54. doi: 10.3928/00904481-20131122-09. PMID: 24295158

Diagnosis

Wirrell E
Continuum (Minneap Minn) 2022 Apr 1;28(2):230-260. doi: 10.1212/CON.0000000000001074. PMID: 35393959
Mauritz M, Hirsch LJ, Camfield P, Chin R, Nardone R, Lattanzi S, Trinka E
Epileptic Disord 2022 Feb 1;24(1):26-49. doi: 10.1684/epd.2021.1376. PMID: 34789447
Ziobro J, Shellhaas RA
Semin Neurol 2020 Apr;40(2):246-256. Epub 2020 Mar 6 doi: 10.1055/s-0040-1702943. PMID: 32143234
Shellhaas RA
Handb Clin Neurol 2019;162:347-361. doi: 10.1016/B978-0-444-64029-1.00017-5. PMID: 31324320
Johnson EL
Med Clin North Am 2019 Mar;103(2):309-324. Epub 2018 Dec 3 doi: 10.1016/j.mcna.2018.10.002. PMID: 30704683

Therapy

Pizzo F, Collotta AD, Di Nora A, Costanza G, Ruggieri M, Falsaperla R
Expert Rev Neurother 2022 Feb;22(2):169-177. Epub 2022 Feb 25 doi: 10.1080/14737175.2022.2030220. PMID: 35144527
Rosenthal ES
Continuum (Minneap Minn) 2021 Oct 1;27(5):1321-1343. doi: 10.1212/CON.0000000000001012. PMID: 34618762
von Wrede R, Helmstaedter C, Surges R
Clin Drug Investig 2021 Mar;41(3):211-220. Epub 2021 Feb 9 doi: 10.1007/s40261-021-01003-y. PMID: 33559102Free PMC Article
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators
Ann Neurol 2021 Feb;89(2):304-314. Epub 2020 Nov 27 doi: 10.1002/ana.25956. PMID: 33180985Free PMC Article
Trinka E, Kälviäinen R
Seizure 2017 Jan;44:65-73. Epub 2016 Nov 14 doi: 10.1016/j.seizure.2016.11.001. PMID: 27890484

Prognosis

Nandan A, Zhou YM, Demoe L, Waheed A, Jain P, Widjaja E
J Int Med Res 2023 Nov;51(11):3000605231213231. doi: 10.1177/03000605231213231. PMID: 38008901Free PMC Article
Salanova V, Sperling MR, Gross RE, Irwin CP, Vollhaber JA, Giftakis JE, Fisher RS; SANTÉ Study Group
Epilepsia 2021 Jun;62(6):1306-1317. Epub 2021 Apr 8 doi: 10.1111/epi.16895. PMID: 33830503
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K
Am J Hum Genet 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. PMID: 33157009Free PMC Article
Patterson JL, Carapetian SA, Hageman JR, Kelley KR
Pediatr Ann 2013 Dec;42(12):249-54. doi: 10.3928/00904481-20131122-09. PMID: 24295158
Rennie JM
Eur J Pediatr 1997 Feb;156(2):83-7. doi: 10.1007/s004310050559. PMID: 9039506

Clinical prediction guides

Fu A, Lado FA
J Clin Neurophysiol 2024 Mar 1;41(3):207-213. doi: 10.1097/WNP.0000000000001045. PMID: 38436388
Guo H, Zhang Q, Dai R, Yu B, Hoekzema K, Tan J, Tan S, Jia X, Chung WK, Hernan R, Alkuraya FS, Alsulaiman A, Al-Muhaizea MA, Lesca G, Pons L, Labalme A, Laux L, Bryant E, Brown NJ, Savva E, Ayres S, Eratne D, Peeters H, Bilan F, Letienne-Cejudo L, Gilbert-Dussardier B, Ruiz-Arana IL, Merlini JM, Boizot A, Bartoloni L, Santoni F, Karlowicz D, McDonald M, Wu H, Hu Z, Chen G, Ou J, Brasch-Andersen C, Fagerberg CR, Dreyer I, Chun-Hui Tsai A, Slegesky V, McGee RB, Daniels B, Sellars EA, Carpenter LA, Schaefer B, Sacoto MJG, Begtrup A, Schnur RE, Punj S, Wentzensen IM, Rhodes L, Pan Q, Bernier RA, Chen C, Eichler EE, Xia K
Am J Hum Genet 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002. PMID: 33157009Free PMC Article
Meisel C, Loddenkemper T
Neuropharmacology 2020 Aug 1;172:107898. Epub 2019 Dec 5 doi: 10.1016/j.neuropharm.2019.107898. PMID: 31839204
Xu MY
Stroke Vasc Neurol 2019 Mar;4(1):48-56. Epub 2018 Dec 9 doi: 10.1136/svn-2018-000175. PMID: 31105979Free PMC Article
Acharya UR, Hagiwara Y, Adeli H
Epilepsy Behav 2018 Nov;88:251-261. Epub 2018 Oct 11 doi: 10.1016/j.yebeh.2018.09.030. PMID: 30317059

Recent systematic reviews

Pressler RM, Abend NS, Auvin S, Boylan G, Brigo F, Cilio MR, De Vries LS, Elia M, Espeche A, Hahn CD, Inder T, Jette N, Kakooza-Mwesige A, Mader S, Mizrahi EM, Moshé SL, Nagarajan L, Noyman I, Nunes ML, Samia P, Shany E, Shellhaas RA, Subota A, Triki CC, Tsuchida T, Vinayan KP, Wilmshurst JM, Yozawitz EG, Hartmann H
Epilepsia 2023 Oct;64(10):2550-2570. Epub 2023 Sep 1 doi: 10.1111/epi.17745. PMID: 37655702
Jafarpour S, Hirsch LJ, Gaínza-Lein M, Kellinghaus C, Detyniecki K
Seizure 2019 May;68:9-15. Epub 2018 May 21 doi: 10.1016/j.seizure.2018.05.013. PMID: 29871784
Steinert T, Fröscher W
Pharmacopsychiatry 2018 Jul;51(4):121-135. Epub 2017 Aug 29 doi: 10.1055/s-0043-117962. PMID: 28850959
Mewasingh LD
BMJ Clin Evid 2014 Jan 31;2014 PMID: 24484859Free PMC Article
Beghi E, Carpio A, Forsgren L, Hesdorffer DC, Malmgren K, Sander JW, Tomson T, Hauser WA
Epilepsia 2010 Apr;51(4):671-5. Epub 2009 Sep 3 doi: 10.1111/j.1528-1167.2009.02285.x. PMID: 19732133

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