TABLE 1.
Molecularly-defined forms of ASD with GI symptoms.
| Genetic locus | Foundation: Reported GI distress | Publications reporting GI distress case reportsCR |
| ADNP | ADNP Kids Research Foundation: GERD, reflux, cyclical vomiting, constipation, diarrhea, delayed digestion, stomach ulcers/scarring, IBS | Van Dijck et al. (2019) |
| CDKL5 | International Foundation for CDKL5 Research: Abdominal distension, constipation, diarrhea, reflux, slow gastric emptying, low motility, risk of life-threatening volvulus and intussusception | Amin et al. (2017) |
| CHD8 | SPARK: Gastrointestinal issues | Bernier et al. (2014) |
| CNTNAP2 | Pitt Hopkins Research Foundation: Syndrome 1 constipation | Gregor et al. (2011) |
| Dup Chr 15q | Dup 15 Q Alliance: Feeding issues in infancy, encopresis, acid reflux, some with G-tube | Shaaya et al. (2015) |
| FOXG1 | International FOXG1 Foundation: Constipation | McMahon et al. (2015) |
| FOXP1 | Siper et al., 2017 found that of 9 people with FOXP1 syndrome, 3 had feeding issues and 4 had constipation. | Frohlich et al. (2016, 2019), Siper et al. (2017) |
| KCNQ2 | KCNQ2 Cure Alliance: GI issues seen commonly | Inagaki et al. (2019) |
| MECP2 | Rett syndrome/Rett Syndrome Research Trust: 92% prevalence of GI dysmotility | Motil et al. (2012) |
| NRXN1 | Pitt Hopkins Research Foundation: Syndrome 2 constipation, reflux | Zweier et al. (2009); Harrison et al. (2011) |
| PTEN | PTEN Hamartoma Tumor Syndrome Foundation: Intestinal hamartomatous polyposis | Shaco-Levy et al. (2017) |
| SCN1A | Dravet Syndrome Foundation: Constipation, dysmotility | Villas et al. (2017) |
| SCN2A | Families SCN2A Foundation: Reflux and constipation | Tian et al. (2019) |
| SHANK3 | Phelan McDermid Syndrome Foundation: Constipation, reflux, some with G-tube | De Rubeis et al. (2018) |
| SYNGAP1 | Bridge the Gap SYNGAP1 ERF: Constipation, reflux, links btn GI and aggression, some with G-tube. | Parker et al. (2015); Prchalova et al. (2017) |
| TCF4 | Pitt Hopkins Research Foundation: Gastrointestinal issues | Peippo and Ignatius (2012) |
| TSC 1 and 2 | Tuberous Sclerosis Alliance: Rectal bleeding, papillomas in GI tract, constipation | Moulis et al. (1992) |
| UBE3A | Angelman Syndrome Foundation Inc.: Constipation/possibly due to low truncal tone, reflux/gagging | Williams et al. (2010) |