Learning, talking, moving and feelings
Some kids talk later, learn differently or feel big feelings strongly. None of it means you are less clever - it means you learn in your own way.
Some kids with 17q12 deletion start talking later and use speech therapy to catch up. Some need extra help with reading, spelling or maths. Some find it hard when plans change, or they flap their hands when they are happy, or loud places feel like too much. Some are just really, really shy.
Here is the thing nobody says enough: needing help is not the same as being less smart. People with 17q12 deletion go to school, have best friends, get jobs, play sports, make music and make jokes. Brains are all wired a bit differently. The ones that work fastest are not the only ones worth having.
If school feels hard, extra help - a helper, more time, exercises for talking or moving - makes a real difference. And if feelings get big and heavy, that is worth telling a grown-up about too.
The newest thing we found: A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel de novo splicing variant, c.1496 +”
What scientists think is going on
Some of the genes on the missing page (like AATF, TADA2A, GGNBP2 and DDX52) are involved in how brain cells grow and talk to each other. Scientists are still working out exactly which ones matter most, and honestly, they don't know yet. What studies show is that learning and speech differences are more common in people with this deletion than in people without it.
Some people with 17q12 deletion also have a diagnosis like autism or ADHD. Those are not extra punishments - they are descriptions of how a brain works, and they come with things that can help.
What the stories say, in numbers
- Learning, talking and behaviour - 201 stories talk about this (8195 times in all).
What the newest stories say
Someone reported something new: Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hyp…
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel de novo splicing variant, c.1496 +”
“Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy…
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”
“This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in …
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”
“This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: 22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10…
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in novel CNV regions reported in this study ( p = 3.68 × 10 −3 ).”
“22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in novel CNV regions reported in this study ( p = 3.68 × 10 −3 ).”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for ND…
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”
“Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”
“Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism le…
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions, both novel and previously reported, were significantly enriched for dosage-sensitive genes previously associated with risk for ASD and”
“Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions, both novel and previously reported, were significantly enriched for dosage-sensitive genes…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other …
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a critical gene for this region.”
“Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a critical gene for this region.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
This entry is version 10. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 78% · last updated 2026-11-14 16:44