| Our cases | Literature review (male patients) | ||||||
---|---|---|---|---|---|---|---|---|
III:6 | III:15 | III:16 | IV:1 | IV:2 | % | 179 | % | |
Age of enrolled | 25Â years | NA | 11Â years and 2Â months | 14Â years and 6Â months | 2Â years and 6Â months | Â | Â | Â |
Age of death | – | 16 years | – | 14 years and 8 months | – |  |  |  |
Intellectual disability | yes | yes | yes | yes | yes | 100% | 159/160 | 99.4% |
Delayed milestones | yes | yes | yes | yes | yes | Â | Â | Â |
Age of head control | NA | 7–8 months | 7–8 months | 3–4 months | 3–4 months |  |  |  |
Age of independent sitting | over 2Â years | 2Â years | 2Â years | 8Â months | 8Â months | Â | Â | Â |
Age learned to walk | over 2Â years | over 2Â years | over 2Â years | 3Â years | 1Â year and 6Â months | Â | Â | Â |
Feed difficulty | yes | yes | yes | no | no | Â | Â | Â |
Seizure | yes | yes | yes | yes | no | 80% | 97/162 | 59.9% |
Age for first seizure | 7Â years | 3Â years | 2Â years | 10Â years | no | Â | Â | Â |
Types of seizures | generalized tonic-clonic seizure, myoclonic seizure, nodding attack and drop attack | generalized tonic–clonic seizures | generalized tonic–clonic seizures | generalized tonic-clonic seizure, myoclonic seizure, nodding attack and drop attack | no |  |  |  |
Hypotonia | yes | yes | yes | yes | yes | 100% | 141/151 | 93.4% |
ASD or autistic feature | yes | yes | yes | yes | yes | 100% | 30/41 | 73.2% |
Poor or no eye-to-eye Contact | yes | yes | yes | yes | yes | Â | Â | Â |
Delayed develop peer relationships | yes | yes | yes | yes | yes | Â | Â | Â |
Speech lack or delay | yes | yes | yes | yes | yes | Â | Â | Â |
Stereotyped hand Movement | yes | yes | yes | yes | yes | Â | Â | Â |
Lack of social or Emotional reciprocity | yes | yes | yes | yes | yes | Â | Â | Â |
Recurrent respiratory Infection | yes | yes | yes | yes | no | 80% | 114/157 | 72.6% |
Constipation | yes | yes | yes | yes | yes | 100% | 39/103 | 37.9% |
MECP2 duplication diagnosis | MLPA | clinical feature and family-based linkage analysis | array CGH | array CGH | MLPA | Â | Â | Â |