Speech Disability: Causes & Reasons

Possible Causes for Speech Disability

Both myotonia and weakness are observed in patients with swallowing and speech disability. [flybase.org]

Myotonic dystrophy initially manifested by speech disability. J Speech Hear Disord 1968 ; 33 : 51 –9. ↵ Darley FL, Aronson AE, Brown JR. Motor speech disorders. [jnnp.bmj.com]

[…] and psychological issues (such as attention deficit, depression and anxiety disorders); Individualized support for learning disabilities and cognitive delays. [genpharmservices.com]

Angelman Syndrome

Angelman syndrome is a rare neurogenetic disorder resulting in delayed neuropsychological development, intellectual disability, speech impairment, movement or balance disorder [ncbi.nlm.nih.gov]

However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. [malacards.org]

This was because, apart from absent speech and intellectual disability, the phenotype of the two men was not characteristic of Angelman syndrome. [ncbi.nlm.nih.gov]

Trisomy X Syndrome

disabilities Weakness of muscles, weak motor skills How is Trisomy X Syndrome Diagnosed? [dovemed.com]

Other symptoms include learning disabilities, speech and behavioral problems, seizures, and kidney problems. [biology-online.org]

Females with triple X syndrome are sometimes taller than average and have an increased risk of learning disabilities and delayed speech and language skills. [humpath.com]

Kaufman Oculocerebrofacial Syndrome

[…] and intellectual disability. [mendelian.org]

[…] microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech [mendelian.org]

(KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability [mendelian.org]

Neonatal Adrenoleukodystrophy

Other symptoms may include vision loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, difficulty walking, poor coordination, [healthinhandorganics.com]

16p12.2 Microdeletion Syndrome

Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from [encyclopedia.pub]

9q33.3-q34.11 Microdeletion Syndrome

Their common clinical features include intellectual disability, psychomotor developmental delay with delayed or absent speech, muscular hypotonia, and strabismus. [sparrho.com]

developmental delay especially concerning speech, microcephaly, short stature, mild dysmorphisms, strabismus, and seizures of incomplete penetrance, and may constitute a [sparrho.com]

[…] seizures in our patient whose deletion did not encompass STXBP1.We suggest that microdeletions of this region on chromosome 9q cause a clinical spectrum including intellectual disability [sparrho.com]

16p12.2 Microdeletion

Common characteristics that have been described in people with a 16p12.2 microdeletion include developmental delay, delayed speech, intellectual disability that ranges from [encyclopedia.pub]

MED13L Haploinsufficiency Syndrome

Overview MED13L haploinsufficiency syndrome is a genetic syndrome that causes intellectual disability, speech problems, and behavioral problems. [rarediseases.org]

[…] is a new syndrome that is characterized by intellectual disability (ID), motor developmental delay, speech impairment, hypotonia and facial dysmorphism. [ijponline.biomedcentral.com]

(Gln1981*) in the MED13L gene with severe intellectual disability and facial dysmorphism. [pubmed.ncbi.nlm.nih.gov]

DEAF1-Related Disorders

speech impairment and motor developmental delay.[14385][14386] Additional features that have being described include seizures, brain malformations, behavioral problems, [rarediseases.org]

and microcephaly Faqeih EA, et al. (2014) No Epilepsy/seizures 4 Primary Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment [gene.sfari.org]

Part A 2014) 3 4 69 Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems. [genecards.org]

Perisylvian Polymicrogyria with Cerebellar Hypoplasia and Arthrogryposis

Mild to severe intellectual disability often is also present. [rarediseases.info.nih.gov]

[…] and symptoms typically become apparent at birth, infancy, or later during childhood, and may include partial paralysis of the face, tongue, jaw, and throat; problems with speech [rarediseases.info.nih.gov]

Colpocephaly

No other abnormality; myopia -5D (HP:0000545); divergent squint right eye; Needed grommets.; moderate speech delay (HP:0000750); moderate intellectual disability; autism spectrum [databases.lovd.nl]

(HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills [databases.lovd.nl]

no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay [databases.lovd.nl]

Pilarowski-Bjornsson Syndrome

Homepage Rare diseases Search Search for a rare disease Disease definition A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, [orpha.net]

speech apraxia, and mild dysmorphic features. [ncbi.nlm.nih.gov]

[…] autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. [orpha.net]

Bainbridge-Ropers Syndrome

This report expands the phenotype of older patients with BRPS; common emerging features include severe intellectual disability (12/12), poor/ absent speech (12/12), autistic [discovery.dundee.ac.uk]

Common emerging features include severe intellectual disability, speech impairment, autistic traits, distinct face, hypotonia, and significant feeding difficulties. [genome.jp]

[…] and intellectual disability. [discovery.dundee.ac.uk]

Snijders Blok-Campeau Syndrome

Snijders Blok-Campeau syndrome is characterized by intellectual disability, speech problems, and distinctive facial features. [encyclopedia.pub]

Snijders Blok-Campeau syndrome is characterized by intellectual disability, speech problems, and distinctive facial features. 1. [encyclopedia.pub]

[…] and speech delay/disorder; nine individuals (29%) displayed autism or autistic features, including stereotypic and hand-flapping behavior. [gene.sfari.org]

speech) Intellectual disability Paroxysmal neurologic episodes (TANGO2 spells). [ncbi.nlm.nih.gov]

TANGO2 deficiency is characterized by developmental delay, intellectual disability, gait incoordination, speech difficulties, seizures, and hypothyroidism. [ncbi.nlm.nih.gov]

Dysarthria, slurred or nasal speech Intellectual disability 97% Typically mild to moderate TANGO2 spells 94% Loss of balance, head & body tilt, dystonia, dysarthria, drooling [ncbi.nlm.nih.gov]

DYRK1A-Related Intellectual Disability

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. [ncbi.nlm.nih.gov]

Free Books & Documents Excerpt Clinical characteristics: DYRK1A syndrome is characterized by intellectual disability including impaired speech development, autism spectrum [pubmed.ncbi.nlm.nih.gov]

ARID1b-Related Disorder

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. [medlineplus.gov]

Additional studies are required to determine the mechanisms by which impaired neural development contributes to the intellectual disability and speech impairment that are [pubmed.ncbi.nlm.nih.gov]

Some affected individuals also have other features, including intellectual disability, severe speech problems, and brain malformations. [medlineplus.gov]

5q14.3 Microdeletion Syndrome

National Center for Advancing Translational Sciences Summary 5q14.3 microdeletion syndrome is characterized by severe intellectual disability, absent speech, stereotypic movements [rarediseases.info.nih.gov]

[…] missing/deleted Some individuals with this deletion may have only mild features, while others may have severe findings that can include growth and developmental delays (speech [dovemed.com]

[…] and motor delays), intellectual disabilities, distinctive facial features, and brain abnormalities This chromosomal anomaly is usually known to develop from sporadic mutations [dovemed.com]

Chromosome 17q12 Microduplication Syndrome

Neurodevelopmental: intellectual abilities ranging from typical to severe disability, speech delay, motor delay, behavioral concerns (aggression, compulsive disorders), autism [chromo17q12.org]

Many people who have 17q12 duplication syndrome have: Intellectual disability Speech delay Seizures Do people who have 17q12-duplication syndrome look different? [simonssearchlight.org]

Speech delay is common, and most affected individuals have some degree of hypotonia and gross motor delay. [typeset.io]

Chromosome 22q13.3 Deletion Syndrome

Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics. 2004 Aug;114(2):451-7. [medlineplus.gov]

These symptoms could include global developmental delay/intellectual disability, motor skills deficits, delayed or absent speech, autism spectrum disorder and minor dysmorphic [childrenshospital.org]

Like many people with Phelan-McDermid syndrome, Charles, now 21, has intellectual disability, speech difficulties and autism. He also has seizures every day. [spectrumnews.org]

Tetrasomy 15q

delayed or absent speech; behavioral abnormalities; and seizures. [rarediseases.info.nih.gov]

delayed or absent speech; behavioral abnormalities; and seizures .[1][2] Most cases of isodicentric chromosome 15 syndrome occur sporadically in people with no family history [rarediseases.info.nih.gov]

The main characteristics of Angelman syndrome are severe intellectual disability, ataxia, lack of speech, and excessively happy demeanor. [14] Signs and symptoms of autism [alicenova.it]

15q11.2 Microdeletion Syndrome

Coincidentally, the patient's mother and maternal step-brother presented with more severe intellectual disability in terms of speech and learning impairment, which progressively [cureus.com]

disability with recurrent bleeding from the eyes and oral cavity. [cureus.com]

We present an eight-year-old Caucasian female with a past medical history of intrauterine growth restriction, microcephaly, a high arched palate, speech delay, and a learning [cureus.com]

Auditory Processing Disorder

It can also co-exist with other disorders such as attention deficit disorder, speech and language delays, learning disabilities, autism spectrum disorders, pervasive developmental [capdots.com]

Alacrima - Achalasia - Mental Retardation

People with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head [ghr.nlm.nih.gov]

[…] delay Generalized hypotonia Hearing impairment Nystagmus Strabismus Muscular hypotonia Spasticity Feeding difficulties Delayed speech and language development And another [mendelian.co]

Delay, Autism, and Dysmorphic Facies INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES Intellectual Disability with Episodic [rgd.mcw.edu]

Christianson Syndrome

The mutation cosegregated with learning disabilities and speech difficulties in the female carriers (mother and three sisters of the proband). [hal.archives-ouvertes.fr]

Clinical features include intellectual disability, limited speech, difficulties with coordination and with walking in addition to seizures that may become drug-resistant. [journals.elsevier.com]

Christianson syndrome is an X-linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia, and absent speech. [rareguru.com]

Chromosome 16q Duplication

This article describes a girl with mild dysmorphic features, speech delay, learning disabilities, and behavioral problems. [ncbi.nlm.nih.gov]

However, all patients with proximal duplication who have available clinical description and appropriate age for evaluation have intellectual disability, speech delay, and [ncbi.nlm.nih.gov]

+ + 4/4 6/6 NR + + + + + + NR Behavioral problems + + - 5/6 NR NA‡ + + + NR + NR Speech delay + + + 4/5 NR NA + + + NR + NR Obesity - + NR 5/6 NR - + + NR NR NR NR Dysmorphic [ncbi.nlm.nih.gov]

X-Linked Mental Retardation Type Lubs

poor speech development, progressive spasticity, recurrent respiratory infections (in ~75% of affected individuals), and seizures (in ~50%). [ncbi.nlm.nih.gov]

[…] hypotonia, feeding difficulty, gastrointestinal manifestations including gastroesophageal reflux and constipation, delayed psychomotor development leading to severe intellectual disability [ncbi.nlm.nih.gov]

Luscan-Lumish Syndrome

Luscan-Lumish syndrome (LLS) is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. [ncbi.nlm.nih.gov]

He exhibited acral overgrowth, jaw malocclusion, and prognathism, but no history of seizures, intellectual disability, or speech delay. [keio.pure.elsevier.com]

speech delay, macrocephaly, facial dysmorphism, and autism spectrum disorders. [onlinelibrary.wiley.com]

17q23.1q23.2 Microdeletion Syndrome

This syndrome presents as behavioral abnormalities, delayed psychomotor development, and intellectual disability with speech delay. [cureus.com]

Lastly, Homozygosity of 11p11.2q13.4 has been associated with delayed psychomotor development, absent speech, severe intellectual disability, and postnatal microcephaly, with [cureus.com]

AD intellectual disability 56 (OMIM #617854) associates with de novo loss-of-function variants of CLTC. [cureus.com]